ClinVar Miner

List of variants in gene FAH reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_000137.4(FAH):c.1056C>T (p.Ser352=) rs1801374 0.06041
NM_000137.4(FAH):c.483C>T (p.Gly161=) rs116272698 0.00943
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000137.4(FAH):c.1193G>A (p.Gly398Glu) rs141946827 0.00010
NM_000137.4(FAH):c.554-1G>T rs80338895 0.00010
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.707-1G>A rs149052294 0.00002
NM_000137.4(FAH):c.709C>T (p.Arg237Ter) rs769550316 0.00002
NM_000137.4(FAH):c.192G>T (p.Gln64His) rs80338894 0.00001
NM_000137.4(FAH):c.3G>A (p.Met1Ile) rs766882348 0.00001
NM_000137.4(FAH):c.742G>A (p.Gly248Arg) rs774861939 0.00001
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
NM_000137.4(FAH):c.192+1G>T rs786204683
NM_000137.4(FAH):c.424A>G (p.Arg142Gly) rs1420414848
NM_000137.4(FAH):c.47A>T (p.Asn16Ile) rs121965073
NM_000137.4(FAH):c.520C>T (p.Arg174Ter) rs781496816
NM_000137.4(FAH):c.572_577delinsTCCAA (p.Gly191fs)
NM_000137.4(FAH):c.648C>G (p.Ile216Met) rs147016995
NM_000137.4(FAH):c.707-1G>C rs149052294
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168

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