ClinVar Miner

List of variants in gene FAH reported as likely pathogenic

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Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00027
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp) rs970505762 0.00007
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser) rs80338900 0.00006
NM_000137.4(FAH):c.782C>T (p.Pro261Leu) rs80338898 0.00006
NM_000137.4(FAH):c.1A>G (p.Met1Val) rs1057517972 0.00003
NM_000137.4(FAH):c.880A>C (p.Thr294Pro) rs370634385 0.00003
NM_000137.4(FAH):c.1210G>A (p.Gly404Ser) rs1297118863 0.00002
NM_000137.4(FAH):c.398A>T (p.His133Leu) rs775152764 0.00002
NM_000137.4(FAH):c.620G>A (p.Gly207Asp) rs754196530 0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=) rs533540262 0.00002
NM_000137.4(FAH):c.726G>A (p.Trp242Ter) rs1567118987 0.00002
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu) rs779040832 0.00001
NM_000137.4(FAH):c.1057G>A (p.Gly353Arg) rs895743403 0.00001
NM_000137.4(FAH):c.1190del (p.Gln397fs) rs786204551 0.00001
NM_000137.4(FAH):c.205del (p.Ser69fs) rs1343211837 0.00001
NM_000137.4(FAH):c.314+1G>A rs1057516408 0.00001
NM_000137.4(FAH):c.438del (p.Asn146fs) rs779642226 0.00001
NM_000137.4(FAH):c.455+1G>A rs2041156486 0.00001
NM_000137.4(FAH):c.520C>T (p.Arg174Ter) rs781496816 0.00001
NM_000137.4(FAH):c.548_553+20del rs768180953 0.00001
NM_000137.4(FAH):c.553+5G>A rs1167783894 0.00001
NM_000137.4(FAH):c.697G>A (p.Asp233Asn) rs144902834 0.00001
NM_000137.4(FAH):c.742G>A (p.Gly248Arg) rs774861939 0.00001
NM_000137.4(FAH):c.81+2T>A rs772895065 0.00001
NM_000137.4(FAH):c.836A>G (p.Gln279Arg) rs121965078 0.00001
NM_000137.4(FAH):c.961-2A>C rs1555442289 0.00001
NM_000137.4(FAH):c.961-2A>G rs1555442289 0.00001
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter) rs886044640 0.00001
NC_000015.9:g.(?_80450382)_(80467453_?)dup
NC_000015.9:g.(?_80450392)_(80450522_?)del
NM_000137.4(FAH):c.-19_20del (p.Met1_Ala7del)
NM_000137.4(FAH):c.1001_1002del (p.Ser334fs) rs2505861280
NM_000137.4(FAH):c.1025dup (p.Asp344fs) rs2041318487
NM_000137.4(FAH):c.1027G>A (p.Gly343Arg) rs970505762
NM_000137.4(FAH):c.1028G>A (p.Gly343Glu) rs1252692081
NM_000137.4(FAH):c.1030del (p.Asp344fs) rs747546798
NM_000137.4(FAH):c.1063-2A>G rs1555442385
NM_000137.4(FAH):c.1063-3_1063-1del rs2505862101
NM_000137.4(FAH):c.107T>C (p.Ile36Thr) rs774648934
NM_000137.4(FAH):c.1090G>C (p.Glu364Gln) rs121965076
NM_000137.4(FAH):c.1097_1099del (p.Ser366del) rs1342338851
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly) rs121965077
NM_000137.4(FAH):c.115dup (p.Gln39fs) rs757682374
NM_000137.4(FAH):c.1181-1G>A rs1057516333
NM_000137.4(FAH):c.1194_1195dup (p.Asp399fs) rs1020717976
NM_000137.4(FAH):c.1195dup (p.Asp399fs)
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter) rs2041368952
NM_000137.4(FAH):c.1210G>C (p.Gly404Arg) rs1297118863
NM_000137.4(FAH):c.1213_1214delinsCA (p.Phe405His) rs1567123622
NM_000137.4(FAH):c.122T>C (p.Leu41Pro) rs2041114940
NM_000137.4(FAH):c.1258T>C (p.Ter420Arg) rs1057516631
NM_000137.4(FAH):c.1258T>G (p.Ter420Gly) rs1057516631
NM_000137.4(FAH):c.14del (p.Pro5fs) rs1057517341
NM_000137.4(FAH):c.192+1G>A rs786204683
NM_000137.4(FAH):c.192+1G>C rs786204683
NM_000137.4(FAH):c.192+1G>T rs786204683
NM_000137.4(FAH):c.193-2A>G rs1555440522
NM_000137.4(FAH):c.1A>C (p.Met1Leu) rs1057517972
NM_000137.4(FAH):c.244A>T (p.Arg82Ter) rs2505841612
NM_000137.4(FAH):c.2T>A (p.Met1Lys) rs1057516934
NM_000137.4(FAH):c.301G>T (p.Glu101Ter) rs11555097
NM_000137.4(FAH):c.314+1G>T rs1057516408
NM_000137.4(FAH):c.34T>C (p.Phe12Leu) rs2505834785
NM_000137.4(FAH):c.365-2A>G rs2041155203
NM_000137.4(FAH):c.36C>A (p.Phe12Leu) rs2041065544
NM_000137.4(FAH):c.386C>T (p.Ser129Phe) rs2505844529
NM_000137.4(FAH):c.394C>T (p.Gln132Ter) rs2041155591
NM_000137.4(FAH):c.401C>A (p.Ala134Asp) rs121965074
NM_000137.4(FAH):c.424A>G (p.Arg142Gly) rs1420414848
NM_000137.4(FAH):c.455G>A (p.Trp152Ter) rs1057516679
NM_000137.4(FAH):c.456-1G>A rs2505850100
NM_000137.4(FAH):c.456-2A>G rs1555441251
NM_000137.4(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.4(FAH):c.461_491del (p.His154fs) rs1057516684
NM_000137.4(FAH):c.47A>T (p.Asn16Ile) rs121965073
NM_000137.4(FAH):c.492del (p.Ser165fs) rs1057517113
NM_000137.4(FAH):c.497T>G (p.Val166Gly) rs778387055
NM_000137.4(FAH):c.509G>T (p.Gly170Val) rs747300179
NM_000137.4(FAH):c.532G>T (p.Gly178Ter) rs2041210221
NM_000137.4(FAH):c.53C>T (p.Pro18Leu) rs2041065794
NM_000137.4(FAH):c.553+1G>A rs2505850314
NM_000137.4(FAH):c.553+2_553+3del rs1555441272
NM_000137.4(FAH):c.553+2del rs2505850316
NM_000137.4(FAH):c.566_606+62del rs2505850594
NM_000137.4(FAH):c.572_577delinsTCCAA (p.Gly191fs) rs2505850609
NM_000137.4(FAH):c.577T>C (p.Cys193Arg) rs2505850621
NM_000137.4(FAH):c.578G>A (p.Cys193Tyr) rs780649150
NM_000137.4(FAH):c.580A>T (p.Lys194Ter) rs373302756
NM_000137.4(FAH):c.5C>T (p.Ser2Phe)
NM_000137.4(FAH):c.606+1G>A rs773450608
NM_000137.4(FAH):c.606+1G>T rs773450608
NM_000137.4(FAH):c.607-1G>A rs771712041
NM_000137.4(FAH):c.607-6T>G rs80338896
NM_000137.4(FAH):c.608del (p.Ala203fs) rs2505853708
NM_000137.4(FAH):c.615del (p.Phe205fs) rs1057517084
NM_000137.4(FAH):c.615dup (p.Val206fs) rs1057517084
NM_000137.4(FAH):c.616del (p.Phe205_Val206insTer) rs2505853729
NM_000137.4(FAH):c.701G>A (p.Trp234Ter) rs2041247681
NM_000137.4(FAH):c.702G>A (p.Trp234Ter) rs765527687
NM_000137.4(FAH):c.706+1G>A rs2505853906
NM_000137.4(FAH):c.706+2T>G rs1555441597
NM_000137.4(FAH):c.72_81dup (p.Pro28fs) rs2505834859
NM_000137.4(FAH):c.744del (p.Pro249fs) rs750741137
NM_000137.4(FAH):c.745C>A (p.Pro249Thr) rs1595894742
NM_000137.4(FAH):c.745C>T (p.Pro249Ser) rs1595894742
NM_000137.4(FAH):c.780_781del (p.Pro261fs) rs1057517436
NM_000137.4(FAH):c.806_807dup (p.Met270fs) rs2505855036
NM_000137.4(FAH):c.81+1G>C rs2041066220
NM_000137.4(FAH):c.81+2T>C rs772895065
NM_000137.4(FAH):c.81+2T>G rs772895065
NM_000137.4(FAH):c.81+2del
NM_000137.4(FAH):c.82-1G>A rs1247460110
NM_000137.4(FAH):c.82-1G>C rs1247460110
NM_000137.4(FAH):c.835C>T (p.Gln279Ter) rs2041255686
NM_000137.4(FAH):c.838-2A>G rs1387788860
NM_000137.4(FAH):c.854_855insTGGCCCCTGCC (p.Tyr286fs) rs1555441852
NM_000137.4(FAH):c.879C>A (p.Tyr293Ter) rs2041271232
NM_000137.4(FAH):c.885dup (p.Asp296Ter) rs1555441861
NM_000137.4(FAH):c.910A>T (p.Lys304Ter) rs2041271608
NM_000137.4(FAH):c.913+2T>C rs2505856991
NM_000137.4(FAH):c.914-1G>A rs2142105483
NM_000137.4(FAH):c.919G>T (p.Gly307Ter) rs2041294652
NM_000137.4(FAH):c.940_943dup (p.Cys315fs) rs2505859229
NM_000137.4(FAH):c.960+1G>A rs1057517201
NM_000137.4(FAH):c.960+2T>C rs2142105542
NM_000137.4(FAH):c.961-2A>T rs1555442289
NM_000137.4(FAH):c.971G>A (p.Trp324Ter) rs2041316956
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000137.4(FAH):c.978_982delinsAGGGAAA (p.Met326fs) rs2505861241

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