ClinVar Miner

List of variants in gene FAH reported as pathogenic for amino acid metabolism disease

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000137.4(FAH):c.554-1G>T rs80338895 0.00010
NM_000137.4(FAH):c.786G>A (p.Trp262Ter) rs80338899 0.00009
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter) rs121965075 0.00008
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser) rs80338900 0.00006
NM_000137.4(FAH):c.1027G>T (p.Gly343Trp) rs970505762 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.1090G>T (p.Glu364Ter) rs121965076 0.00002
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.696C>T (p.Asn232=) rs533540262 0.00002
NM_000137.4(FAH):c.707-1G>A rs149052294 0.00002
NM_000137.4(FAH):c.709C>T (p.Arg237Ter) rs769550316 0.00002
NM_000137.4(FAH):c.1025C>T (p.Pro342Leu) rs779040832 0.00001
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000137.4(FAH):c.233G>A (p.Trp78Ter) rs1268482591 0.00001
NM_000137.4(FAH):c.372C>A (p.Tyr124Ter) rs1193030161 0.00001
NM_000137.4(FAH):c.3G>A (p.Met1Ile) rs766882348 0.00001
NM_000137.4(FAH):c.438del (p.Asn146fs) rs779642226 0.00001
NM_000137.4(FAH):c.548_553+20del rs768180953 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.836A>G (p.Gln279Arg) rs121965078 0.00001
NM_000137.4(FAH):c.963C>A (p.Tyr321Ter) rs886044640 0.00001
NM_000137.4(FAH):c.982C>T (p.Gln328Ter) rs765134063 0.00001
NC_000015.10:g.(?_80177527)_(80186219_?)del
NC_000015.9:g.(?_80445387)_(80445487_?)del
NC_000015.9:g.(?_80445387)_(80478561_?)del
NC_000015.9:g.(?_80450392)_(80454688_?)del
NC_000015.9:g.(?_80460384)_(80460668_?)del
NC_000015.9:g.(?_80464481)_(80478561_?)del
NC_000015.9:g.(?_80465346)_(80465496_?)del
NC_000015.9:g.(?_80473374)_(80478561_?)del
NM_000137.4(FAH):c.1003_1004del (p.Val335fs) rs1595897345
NM_000137.4(FAH):c.1014del (p.Gly337_Cys338insTer)
NM_000137.4(FAH):c.1027G>A (p.Gly343Arg) rs970505762
NM_000137.4(FAH):c.1030del (p.Asp344fs) rs747546798
NM_000137.4(FAH):c.1033del (p.Leu345fs)
NM_000137.4(FAH):c.1062+2T>G rs2142107894
NM_000137.4(FAH):c.1063-1G>A rs2041326700
NM_000137.4(FAH):c.1063-2A>G rs1555442385
NM_000137.4(FAH):c.1141A>G (p.Arg381Gly) rs121965077
NM_000137.4(FAH):c.1180+1G>A rs980415517
NM_000137.4(FAH):c.1203C>A (p.Tyr401Ter) rs2041368952
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
NM_000137.4(FAH):c.122T>C (p.Leu41Pro) rs2041114940
NM_000137.4(FAH):c.1235T>A (p.Val412Glu) rs2142112670
NM_000137.4(FAH):c.14del (p.Pro5fs) rs1057517341
NM_000137.4(FAH):c.191del (p.Gln64fs) rs2142090831
NM_000137.4(FAH):c.192+1G>T rs786204683
NM_000137.4(FAH):c.221del (p.Gly74fs) rs2041131954
NM_000137.4(FAH):c.379_380dup (p.Tyr128fs)
NM_000137.4(FAH):c.382_383insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCCTGACCTCGTGAACCGCCCGCCTCGCCGTCCGAACGAGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACTACACAGACTTCT (p.Tyr128delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuLeuThrSerTer)
NM_000137.4(FAH):c.38C>T (p.Pro13Leu) rs2142086863
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.456G>A (p.Trp152Ter) rs370686447
NM_000137.4(FAH):c.47A>T (p.Asn16Ile) rs121965073
NM_000137.4(FAH):c.484del (p.Arg162fs) rs2142097906
NM_000137.4(FAH):c.520C>T (p.Arg174Ter) rs781496816
NM_000137.4(FAH):c.535_536del (p.Gln179fs) rs2041210282
NM_000137.4(FAH):c.607-1G>A rs771712041
NM_000137.4(FAH):c.615del (p.Phe205fs) rs1057517084
NM_000137.4(FAH):c.615dup (p.Val206fs) rs1057517084
NM_000137.4(FAH):c.61G>T (p.Val21Phe) rs2041065908
NM_000137.4(FAH):c.667G>T (p.Glu223Ter) rs2142101007
NM_000137.4(FAH):c.697del (p.Asp233fs) rs2142101046
NM_000137.4(FAH):c.698A>T (p.Asp233Val) rs80338897
NM_000137.4(FAH):c.700T>G (p.Trp234Gly) rs1555441595
NM_000137.4(FAH):c.701G>A (p.Trp234Ter)
NM_000137.4(FAH):c.702G>A (p.Trp234Ter) rs765527687
NM_000137.4(FAH):c.707-1G>C rs149052294
NM_000137.4(FAH):c.718C>T (p.Gln240Ter)
NM_000137.4(FAH):c.721A>T (p.Lys241Ter) rs2142101647
NM_000137.4(FAH):c.726G>A (p.Trp242Ter) rs1567118987
NM_000137.4(FAH):c.72_81dup (p.Pro28fs)
NM_000137.4(FAH):c.744del (p.Pro249fs) rs750741137
NM_000137.4(FAH):c.745C>A (p.Pro249Thr)
NM_000137.4(FAH):c.785G>A (p.Trp262Ter)
NM_000137.4(FAH):c.808dup (p.Met270fs)
NM_000137.4(FAH):c.82-1G>A rs1247460110
NM_000137.4(FAH):c.82_83del (p.Pro28fs) rs1595889891
NM_000137.4(FAH):c.835del (p.Gln279fs) rs1555441703
NM_000137.4(FAH):c.839del (p.Asp280fs)
NM_000137.4(FAH):c.843del (p.Arg282fs)
NM_000137.4(FAH):c.860del (p.Leu287fs) rs2142103306
NM_000137.4(FAH):c.879C>A (p.Tyr293Ter)
NM_000137.4(FAH):c.910A>T (p.Lys304Ter) rs2041271608
NM_000137.4(FAH):c.914-1G>A rs2142105483
NM_000137.4(FAH):c.914-2A>T
NM_000137.4(FAH):c.932del (p.Ala311fs) rs2142105509
NM_000137.4(FAH):c.963C>G (p.Tyr321Ter)
NM_000137.4(FAH):c.96dup (p.Gly33fs) rs2142090708
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.978dup (p.Leu327fs) rs1595897321

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