ClinVar Miner

List of variants in gene ABCC8 reported as pathogenic by GeneReviews

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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_000352.5(ABCC8):c.1144G>A (p.Glu382Lys) rs80356651
NM_000352.5(ABCC8):c.215A>G (p.Asn72Ser) rs80356634
NM_000352.5(ABCC8):c.257T>C (p.Val86Ala) rs193929360
NM_000352.5(ABCC8):c.257T>G (p.Val86Gly) rs193929360
NM_000352.5(ABCC8):c.3554C>A (p.Ser1185Tyr) rs193929369
NM_000352.5(ABCC8):c.394T>C (p.Phe132Leu) rs80356637
NM_000352.5(ABCC8):c.394T>G (p.Phe132Val) rs80356637
NM_000352.5(ABCC8):c.404T>C (p.Leu135Pro) rs193929364
NM_000352.5(ABCC8):c.4270A>G (p.Ile1424Val) rs80356653
NM_000352.5(ABCC8):c.627C>A (p.Asp209Glu) rs80356640
NM_000352.5(ABCC8):c.631C>A (p.Gln211Lys) rs193929366
NM_000352.5(ABCC8):c.638T>G (p.Leu213Arg) rs80356642
NM_000352.5(ABCC8):c.674T>C (p.Leu225Pro) rs1048095

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