ClinVar Miner

List of variants reported as likely pathogenic for diazoxide-resistant focal hyperinsulinism by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000352.5(ABCC8):c.290+2T>C rs1554948310
NM_000352.5(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.5(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196

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