ClinVar Miner

List of variants reported as pathogenic for premature ovarian failure 22

Included ClinVar conditions (1):

Premature ovarian failure 22

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_144688.5(KASH5):c.747G>A (p.Ala249=)	rs200723797	0.00103
NM_144688.5(KASH5):c.1271_1274del (p.Arg424fs)
NM_144688.5(KASH5):c.590T>C (p.Leu197Pro)

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