List of variants in gene ABCC8 reported as likely pathogenic by Molecular Genetics, Madras Diabetes Research Foundation

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)	rs761749884	0.00001
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)	rs797045209	0.00001
NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val)	rs772094360	0.00001
NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe)	rs1554949196
NM_000352.6(ABCC8):c.1608T>A (p.Phe536Leu)	rs753618932
NM_000352.6(ABCC8):c.1del (p.Met1fs)	rs2133738442
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro)	rs1402090677
NM_000352.6(ABCC8):c.267del (p.Ile89fs)	rs2133728449
NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu)	rs1554909277
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu)	rs80356637
NM_000352.6(ABCC8):c.4264T>A (p.Ser1422Thr)	rs2133401009
NM_000352.6(ABCC8):c.4610A>G (p.His1537Arg)	rs2133390317
NM_000352.6(ABCC8):c.61del (p.Val21fs)	rs2133737961
NM_000352.6(ABCC8):c.634G>T (p.Asp212Tyr)	rs2133680409
NM_000352.6(ABCC8):c.643G>A (p.Val215Ile)	rs2133680286
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro)	rs1048095

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