ClinVar Miner

List of variants in gene ABCC8 reported as uncertain significance for not provided

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Total variants: 26
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HGVS dbSNP
NM_000352.5(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257
NM_000352.5(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838
NM_000352.5(ABCC8):c.1220T>A (p.Leu407Gln) rs1564955834
NM_000352.5(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.5(ABCC8):c.1270G>A (p.Asp424Asn) rs577545383
NM_000352.5(ABCC8):c.170A>G (p.Lys57Arg)
NM_000352.5(ABCC8):c.1874C>T (p.Ala625Val)
NM_000352.5(ABCC8):c.2539G>A (p.Ala847Thr)
NM_000352.5(ABCC8):c.2610C>T (p.Ala870=) rs111967655
NM_000352.5(ABCC8):c.279C>A (p.Ile93=) rs550990673
NM_000352.5(ABCC8):c.2993G>C (p.Arg998Pro) rs776248166
NM_000352.5(ABCC8):c.3203C>T (p.Thr1068Met)
NM_000352.5(ABCC8):c.3293G>A (p.Arg1098His) rs1057523131
NM_000352.5(ABCC8):c.3613G>A (p.Glu1205Lys) rs768448830
NM_000352.5(ABCC8):c.375C>G (p.His125Gln) rs60637558
NM_000352.5(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930
NM_000352.5(ABCC8):c.4028A>T (p.Lys1343Met) rs886039301
NM_000352.5(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.5(ABCC8):c.4268T>G (p.Ile1423Ser) rs1564874456
NM_000352.5(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833
NM_000352.5(ABCC8):c.4607C>T (p.Ala1536Val) rs745918247
NM_000352.5(ABCC8):c.640G>A (p.Gly214Arg) rs1274656446
NM_000352.5(ABCC8):c.647G>A (p.Arg216His)
NM_000352.5(ABCC8):c.793C>T (p.Arg265Trp) rs1057524701
NM_000352.5(ABCC8):c.794G>A (p.Arg265Gln) rs757018137
NM_000352.5(ABCC8):c.824G>A (p.Arg275Gln) rs185040406

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