List of variants in gene HADH reported as likely pathogenic for Hyperinsulinemic hypoglycemia

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_005327.7(HADH):c.280G>C (p.Glu94Gln)	rs1274785101	0.00001
NM_005327.7(HADH):c.100G>C (p.Gly34Arg)	rs779135938
NM_005327.7(HADH):c.261+1G>A	rs1398546361
NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs)	rs766656997
NM_005327.7(HADH):c.380A>G (p.Lys127Arg)	rs1735626197
NM_005327.7(HADH):c.688G>A (p.Ala230Thr)	rs780574282
NM_005327.7(HADH):c.710-822C>T	rs183387994

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