List of variants in gene ABCC8 reported as pathogenic for autosomal recessive disease

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

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)	rs72559722	0.00002
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)	rs72559734	0.00001
NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu)	rs1554909277
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys)	rs137852673

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