ClinVar Miner

List of variants reported for Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8; Lethal acantholytic epidermolysis bullosa; Woolly hair-skin fragility syndrome; Keratosis palmoplantaris striata 2; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis by Division of Human Genetics, Children's Hospital of Philadelphia

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_004415.4(DSP):c.928dup (p.Glu310fs)	rs794728137

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