ClinVar Miner

List of variants in gene ABCC8 reported as uncertain significance by GeneDx

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Total variants: 5
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HGVS dbSNP
NM_000352.5(ABCC8):c.1270G>A (p.Asp424Asn) rs577545383
NM_000352.5(ABCC8):c.3293G>A (p.Arg1098His) rs1057523131
NM_000352.5(ABCC8):c.4028A>T (p.Lys1343Met) rs886039301
NM_000352.5(ABCC8):c.793C>T (p.Arg265Trp) rs1057524701
NM_000352.5(ABCC8):c.794G>A (p.Arg265Gln) rs757018137

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