ClinVar Miner

List of variants in gene AHCY reported by Ambry Genetics

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000687.4(AHCY):c.367G>A (p.Gly123Arg) rs41301825 0.00406
NM_000687.4(AHCY):c.274A>G (p.Ile92Val) rs11552695 0.00327
NM_000687.4(AHCY):c.100C>T (p.Arg34Cys) rs145239391 0.00009
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys) rs121918608 0.00009
NM_000687.4(AHCY):c.769T>C (p.Tyr257His) rs140810436 0.00007
NM_000687.4(AHCY):c.29-5C>T rs375669228 0.00006
NM_000687.4(AHCY):c.1280C>T (p.Pro427Leu) rs377090568 0.00004
NM_000687.4(AHCY):c.257A>G (p.Asp86Gly) rs773162208 0.00003
NM_000687.4(AHCY):c.266C>T (p.Ala89Val) rs755222515 0.00002
NM_000687.4(AHCY):c.293C>T (p.Pro98Leu) rs757966746 0.00002
NM_000687.4(AHCY):c.145C>T (p.Arg49Cys) rs369428934 0.00001
NM_000687.4(AHCY):c.473C>T (p.Thr158Met) rs769267513 0.00001
NM_000687.4(AHCY):c.1009A>G (p.Ile337Val) rs771507250
NM_000687.4(AHCY):c.1045T>A (p.Cys349Ser)
NM_000687.4(AHCY):c.1124A>G (p.His375Arg)
NM_000687.4(AHCY):c.1133A>G (p.Lys378Arg)
NM_000687.4(AHCY):c.1168-5C>T
NM_000687.4(AHCY):c.1228A>T (p.Thr410Ser) rs1194152113
NM_000687.4(AHCY):c.142G>A (p.Ala48Thr)
NM_000687.4(AHCY):c.184G>A (p.Val62Ile)
NM_000687.4(AHCY):c.497A>C (p.Lys166Thr)
NM_000687.4(AHCY):c.560G>A (p.Ser187Asn)
NM_000687.4(AHCY):c.614G>A (p.Arg205Gln)
NM_000687.4(AHCY):c.706G>A (p.Gly236Arg)
NM_000687.4(AHCY):c.727G>A (p.Glu243Lys)
NM_000687.4(AHCY):c.946G>A (p.Val316Met)

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