ClinVar Miner

List of variants in gene PAH reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
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Total variants: 42
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HGVS dbSNP
NM_000277.2(PAH):c.-147C>T rs62517177
NM_000277.2(PAH):c.-224G>A rs886048892
NM_000277.2(PAH):c.-232C>G rs886048893
NM_000277.2(PAH):c.-456delG rs113191080
NM_000277.3(PAH):c.*187G>A rs1801153
NM_000277.3(PAH):c.*735T>C rs185081299
NM_000277.3(PAH):c.*772_*775del rs551502562
NM_000277.3(PAH):c.*79G>A rs569495604
NM_000277.3(PAH):c.-71A>C rs2280615
NM_000277.3(PAH):c.-73C>G rs886048891
NM_000277.3(PAH):c.-81C>T rs7954004
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1066-3C>T rs62507344
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) rs62517163
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.125_127AAG[2] (p.Glu44del) rs199475628
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968
NM_000277.3(PAH):c.1315+1G>A rs5030861
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598
NM_000277.3(PAH):c.169-13T>G rs62507341
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887
NM_000277.3(PAH):c.30C>G (p.Gly10=) rs1801145
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933
NM_000277.3(PAH):c.897T>C (p.Phe299=) rs886048890
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853
NM_001354304.2(PAH):c.-95-385_-95-382del rs147576673

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