ClinVar Miner

List of variants reported as benign 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

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00647
NM_004415.4(DSP):c.4320G>A (p.Val1440=) rs571103583 0.00013
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953 0.00002

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