ClinVar Miner

List of variants reported as uncertain significance for hypotrichosis 13 by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (1):

Hypotrichosis 13

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)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_033448.3(KRT71):c.1468G>A (p.Val490Met)	rs202112087
NM_033448.3(KRT71):c.650A>G (p.Lys217Arg)
NM_033448.3(KRT71):c.760A>G (p.Lys254Glu)

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