ClinVar Miner

List of variants in gene PAH reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys) rs62644467 0.00004
NM_000277.3(PAH):c.925G>T (p.Ala309Ser) rs1205657950 0.00004
NM_000277.3(PAH):c.125A>G (p.Lys42Arg) rs62635346 0.00003
NM_000277.3(PAH):c.1097C>T (p.Pro366Leu) rs62516098 0.00001
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg) rs1874694173 0.00001
NM_000277.3(PAH):c.1216A>G (p.Ile406Val) rs749613899 0.00001
NM_000277.3(PAH):c.1259G>T (p.Arg420Met) rs767075719 0.00001
NM_000277.3(PAH):c.223G>A (p.Asp75Asn) rs767453024 0.00001
NM_000277.3(PAH):c.356C>T (p.Pro119Leu) rs374999809 0.00001
NM_000277.3(PAH):c.435C>A (p.Asp145Glu) rs1375045653 0.00001
NM_000277.3(PAH):c.632C>A (p.Pro211Gln) rs281865443 0.00001
NM_000277.3(PAH):c.811C>T (p.His271Tyr) rs62517164 0.00001
NM_000277.3(PAH):c.828G>A (p.Met276Ile) rs62514954 0.00001
NC_000012.11:g.(?_103260354)_(103260461_?)dup
NM_000277.3(PAH):c.1013A>C (p.Asp338Ala) rs1169310686
NM_000277.3(PAH):c.1030G>A (p.Gly344Ser) rs62508679
NM_000277.3(PAH):c.1049C>G (p.Ser350Cys)
NM_000277.3(PAH):c.1066-10_1070del rs1592947582
NM_000277.3(PAH):c.1096C>T (p.Pro366Ser) rs2136635839
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly) rs1592947508
NM_000277.3(PAH):c.1130A>G (p.Tyr377Cys) rs62642942
NM_000277.3(PAH):c.1144T>C (p.Phe382Leu) rs1555203681
NM_000277.3(PAH):c.1155_1156delinsGC (p.Tyr386His) rs2136635586
NM_000277.3(PAH):c.1156T>G (p.Tyr386Asp) rs199475691
NM_000277.3(PAH):c.1199+4A>G rs1471682834
NM_000277.3(PAH):c.1229T>G (p.Phe410Cys) rs62644475
NM_000277.3(PAH):c.1253C>T (p.Thr418Ile) rs1874539947
NM_000277.3(PAH):c.1259G>C (p.Arg420Thr) rs767075719
NM_000277.3(PAH):c.1304A>T (p.Asp435Val) rs1592945394
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?) rs199475641
NM_000277.3(PAH):c.157C>A (p.Arg53Ser) rs199475619
NM_000277.3(PAH):c.182A>G (p.Asn61Ser) rs2136702181
NM_000277.3(PAH):c.200C>A (p.Ser67Tyr)
NM_000277.3(PAH):c.205C>T (p.Pro69Ser) rs199475678
NM_000277.3(PAH):c.211C>T (p.Arg71Cys)
NM_000277.3(PAH):c.212G>C (p.Arg71Pro) rs62508695
NM_000277.3(PAH):c.232G>A (p.Glu78Lys) rs62507326
NM_000277.3(PAH):c.242C>A (p.Thr81Asn) rs796064502
NM_000277.3(PAH):c.265C>A (p.Pro89Thr)
NM_000277.3(PAH):c.320A>C (p.His107Pro) rs542645236
NM_000277.3(PAH):c.441+6T>C rs199475698
NM_000277.3(PAH):c.443G>A (p.Gly148Asp) rs1555205655
NM_000277.3(PAH):c.461A>G (p.Tyr154Cys) rs1565853526
NM_000277.3(PAH):c.467C>G (p.Ala156Gly) rs570748767
NM_000277.3(PAH):c.467C>T (p.Ala156Val) rs570748767
NM_000277.3(PAH):c.470G>T (p.Arg157Ile) rs199475611
NM_000277.3(PAH):c.510-5T>A rs1875378128
NM_000277.3(PAH):c.515A>G (p.Gln172Arg)
NM_000277.3(PAH):c.516G>C (p.Gln172His) rs192592111
NM_000277.3(PAH):c.562G>A (p.Gly188Ser) rs2136649680
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.602A>G (p.His201Arg) rs62517180
NM_000277.3(PAH):c.613G>A (p.Glu205Lys) rs63083560
NM_000277.3(PAH):c.614A>G (p.Glu205Gly) rs62508593
NM_000277.3(PAH):c.637C>T (p.Leu213Phe) rs1131691945
NM_000277.3(PAH):c.641A>G (p.Glu214Gly)
NM_000277.3(PAH):c.649T>C (p.Cys217Arg) rs62508718
NM_000277.3(PAH):c.650G>T (p.Cys217Phe)
NM_000277.3(PAH):c.666T>G (p.Asp222Glu) rs1263259211
NM_000277.3(PAH):c.670A>C (p.Ile224Leu)
NM_000277.3(PAH):c.670A>G (p.Ile224Val)
NM_000277.3(PAH):c.716G>C (p.Gly239Ala) rs62507283
NM_000277.3(PAH):c.721C>A (p.Arg241Ser) rs76687508
NM_000277.3(PAH):c.780C>G (p.Phe260Leu)
NM_000277.3(PAH):c.789C>A (p.Phe263Leu) rs62642944
NM_000277.3(PAH):c.794G>A (p.Cys265Tyr) rs62507335
NM_000277.3(PAH):c.805A>G (p.Ile269Val) rs62508692
NM_000277.3(PAH):c.838G>C (p.Glu280Gln) rs62508698
NM_000277.3(PAH):c.920G>T (p.Gly307Val)
NM_000277.3(PAH):c.938C>A (p.Ala313Glu) rs62642914
NM_000277.3(PAH):c.990G>C (p.Glu330Asp) rs62508580

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