List of variants in gene ABCC8 studied for Neonatal diabetes mellitus

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)	rs61748766	0.00948
NM_000352.6(ABCC8):c.4412-14C>T	rs193922404	0.00016
NM_000352.6(ABCC8):c.2117-12C>A	rs193922398	0.00004
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.1606T>C (p.Phe536Leu)	rs193922396
NM_000352.6(ABCC8):c.1608T>A (p.Phe536Leu)	rs753618932
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg)	rs764349043
NM_000352.6(ABCC8):c.2974C>T (p.Arg992Cys)	rs1954577653
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.3593C>T (p.Pro1198Leu)	rs1554909277
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu)	rs80356637
NM_000352.6(ABCC8):c.394T>G (p.Phe132Val)	rs80356637
NM_000352.6(ABCC8):c.413-5G>A	rs186946111
NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu)	rs193922401
NM_000352.6(ABCC8):c.4264T>A (p.Ser1422Thr)	rs2133401009
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.4610A>G (p.His1537Arg)	rs2133390317
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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