Pubvar

Variant	Gene	dbSNP	Most severe consequence	Allele frequency in 1000 Genomes
12:103232156:G/T	PAH	rs535715056	3_prime_UTR_variant	0.00019968
12:103232178:TTAC/-	PAH	rs551502562	3_prime_UTR_variant	0.0059904
12:103232218:A/G	PAH	rs185081299	3_prime_UTR_variant	0.0013978
12:103232766:C/T	PAH	rs1801153	3_prime_UTR_variant	0.2925
12:103232809:T/C	PAH	rs375319584	3_prime_UTR_variant	0.0033946
12:103232874:C/T	PAH	rs569495604	3_prime_UTR_variant	0.00019968
12:103232934:C/A	PAH	rs372637021	3_prime_UTR_variant	0.0025959
12:103232951:CTTTA/-	PAH	rs794727086	coding_sequence_variant	-
12:103232956:-/T	PAH	rs199475641	frameshift_variant	-
12:103232972:G/T	PAH	rs76542238	missense_variant	-
12:103232973:C/G	PAH		missense_variant	-
12:103232981:A/G	PAH		missense_variant	-
12:103232982:G/A	PAH		missense_variant	-
12:103232994:C/A	PAH		stop_gained	-
12:103232998:T/G	PAH		splice_acceptor_variant	-
12:103233001:A/G	PAH	rs62509020	intron_variant	-
12:103233011:A/G	PAH	rs62508635	intron_variant	-
12:103233031:G/A	PAH	rs62509021	intron_variant	0.010583
12:103234172:A/T	PAH	rs62508650	intron_variant	-
12:103234173:C/G	PAH		intron_variant	-
12:103234174:T/C	PAH	rs62508649	intron_variant	-
12:103234174:TTACTG/-	PAH		splice_donor_variant	-
12:103234176:A/G	PAH	rs1799970	splice_donor_variant	-
12:103234177:C/A	PAH		splice_donor_variant	-
12:103234177:C/T	PAH	rs5030861	splice_donor_variant	-
12:103234187:A/-	PAH		frameshift_variant	-
12:103234192:G/A	PAH		missense_variant	-
12:103234192:G/T	PAH	rs199475659	missense_variant	-
12:103234194:-/A	PAH		frameshift_variant	-
12:103234204:A/G	PAH	rs199475607	missense_variant	-
12:103234207:T/G	PAH	rs794727047	missense_variant	-
12:103234208:G/T	PAH	rs764974157	missense_variant	-
12:103234211:G/-	PAH		frameshift_variant	-
12:103234211:G/A	PAH		stop_gained	-
12:103234215:A/G	PAH	rs59326968	synonymous_variant	0.0465
12:103234222:A/G	PAH	rs199475670	missense_variant	-
12:103234222:A/T	PAH		stop_gained	-
12:103234224:G/-	PAH		frameshift_variant	-
12:103234229:C/T	PAH	rs199475621	missense_variant	-
12:103234231:A/C	PAH		missense_variant	-
12:103234231:A/G	PAH	rs199475696	missense_variant	-
12:103234234:C/A	PAH	rs767075719	missense_variant	-
12:103234237:T/C	PAH	rs752255985	missense_variant	-
12:103234237:T/G	PAH		missense_variant	-
12:103234240:G/T	PAH		missense_variant	-
12:103234241:T/G	PAH	rs62644501	missense_variant	-
12:103234243:T/C	PAH		missense_variant	-
12:103234244:A/C	PAH		missense_variant	-
12:103234244:A/G	PAH	rs62644471	missense_variant	-
12:103234244:A/T	PAH	rs62644471	missense_variant	-