ClinVar Miner

List of variants studied for Alopecia universalis congenita; Atrichia with papular lesions by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005144.5(HR):c.184C>A (p.Pro62Thr) rs137929972 0.00053
NM_005144.5(HR):c.1946C>T (p.Thr649Met) rs750804675 0.00003
NM_005144.5(HR):c.1957G>A (p.Gly653Arg)

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