ClinVar Miner

List of variants in gene FAH reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000137.4(FAH):c.462C>A (p.His154Gln) rs144234072 0.00038
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.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.192G>T (p.Gln64His) rs80338894 0.00001
NM_000137.4(FAH):c.191del (p.Gln64fs) rs2142090831
NM_000137.4(FAH):c.2T>A (p.Met1Lys) rs1057516934
NM_000137.4(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.4(FAH):c.606+1G>A rs773450608

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