ClinVar Miner

List of variants reported as uncertain significance for ataxia-hypogonadism-choroidal dystrophy syndrome by New York Genome Center

Included ClinVar conditions (3):

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu)	rs140929996	0.00004
NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg)	rs777466386	0.00004

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