ClinVar Miner

List of variants reported for Anonychia; Failure to thrive; Constipation; Abnormality of the dentition; Abnormality of the skin; Pterygium of nails; Sparse scalp hair; Discolored lateral incisors; Abnormal blistering of the skin; Nail dystrophy; Abnormal skin morphology; Generalized abnormality of skin; Irregular dentition; Hyperkeratotic papule by Center for Personalized Medicine, Children's Hospital Los Angeles

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000494.4(COL17A1):c.4145_4148del (p.Glu1382fs)	rs765243124

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