ClinVar Miner

List of variants in gene H6PD reported as likely benign for cortisone reductase deficiency

Included ClinVar conditions (2):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_004285.4(H6PD):c.1053C>T (p.Gly351=)	rs34448374	0.00319
NM_004285.4(H6PD):c.1342G>A (p.Ala448Thr)	rs34580447	0.00150

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