List of variants in gene ABCC8 reported as pathogenic by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.3989-9G>A	rs151344623	0.00019
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)	rs570388861	0.00003
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)	rs72559722	0.00002
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)	rs757650373	0.00001
NM_000352.6(ABCC8):c.2695-2A>T	rs863225278
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)	rs151344624
NM_000352.6(ABCC8):c.4456_4457del (p.Arg1486fs)	rs863225279
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)	rs137852671
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)	rs863225280
NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys)	rs771075821

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