ClinVar Miner

List of variants in gene ABCC8 reported by OMIM

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Total variants: 27
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HGVS dbSNP
ABCC8, IVS8, A-G, -1013
NM_000352.4(ABCC8):c.-190C>G rs1395224084
NM_000352.4:c.(?_1818)_(1923_?)del
NM_000352.5(ABCC8):c.1144G>A (p.Glu382Lys) rs80356651
NM_000352.5(ABCC8):c.134C>T (p.Pro45Leu) rs267606623
NM_000352.5(ABCC8):c.1672-20A>G
NM_000352.5(ABCC8):c.1744C>G (p.Leu582Val) rs137852674
NM_000352.5(ABCC8):c.2147G>T (p.Gly716Val) rs72559723
NM_000352.5(ABCC8):c.215A>G (p.Asn72Ser) rs80356634
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.3989-9G>A rs151344623
NM_000352.5(ABCC8):c.4055G>A (p.Arg1352His) rs28936370
NM_000352.5(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.5(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673
NM_000352.5(ABCC8):c.4154_4156CCT[1] (p.Ser1386del) rs387906408
NM_000352.5(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676
NM_000352.5(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.5(ABCC8):c.4270A>G (p.Ile1424Val) rs80356653
NM_000352.5(ABCC8):c.4307G>A (p.Arg1436Gln) rs387906407
NM_000352.5(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371
NM_000352.5(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.5(ABCC8):c.512dup (p.Thr172fs) rs1564980510
NM_000352.5(ABCC8):c.560T>A (p.Val187Asp) rs137852672
NM_000352.5(ABCC8):c.638T>G (p.Leu213Arg) rs80356642
NM_001287174.2(ABCC8):c.4163_4165del (p.Phe1388del) rs151344624

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