ClinVar Miner

List of variants in gene DSP reported as not provided for Primary dilated cardiomyopathy; Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Lethal acantholytic epidermolysis bullosa; Arrhythmogenic right ventricular cardiomyopathy; Severe dermatitis-multiple allergies-metabolic wasting syndrome; Palmoplantar keratoderma; Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.8218G>C (p.Glu2740Gln) rs1759627302

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