List of variants in gene ABCC8 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)	rs137852676	0.00004
NM_000352.6(ABCC8):c.1671+1G>C	rs1057516509	0.00001
NM_000352.6(ABCC8):c.2202del (p.Ala736fs)	rs1554924035	0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)	rs541269678	0.00001
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)	rs1462559571	0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)	rs1201126343	0.00001
NM_000352.6(ABCC8):c.1606T>C (p.Phe536Leu)	rs193922396
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)	rs193922397
NM_000352.6(ABCC8):c.1630+1G>A
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)	rs1382448285
NM_000352.6(ABCC8):c.3400-1G>A	rs576684889
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs)	rs1263082097
NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys)	rs193922399
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)	rs193922400
NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu)	rs193922401
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro)	rs2133402479
NM_000352.6(ABCC8):c.4288del (p.Leu1430fs)	rs2133400786
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu)	rs193922405
NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser)	rs193922406
NM_000352.6(ABCC8):c.4564G>A (p.Val1522Met)	rs193922407
NM_000352.6(ABCC8):c.580-2A>G
NM_000352.6(ABCC8):c.805del (p.Ala269fs)	rs1564976749

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