List of variants in gene ABCC8 reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)	rs200670692	0.00004
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)	rs760062120	0.00001
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)	rs797045209	0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)	rs193922402	0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)	rs72559715	0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)	rs72559730	0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)	rs769569410	0.00001
NM_000352.6(ABCC8):c.1647del (p.Ile550fs)	rs2133554613
NM_000352.6(ABCC8):c.290+2T>C	rs1554948310
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)	rs2133711315
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)	rs28936370
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)	rs758231286

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