ClinVar Miner

List of variants in gene DSP studied for Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8; Epidermolysis bullosa, lethal acantholytic; Skin fragility woolly hair syndrome; Keratosis palmoplantaris striata II; Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis

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Total variants: 8
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HGVS dbSNP
NM_004415.2(DSP):c.137G>A (p.Gly46Asp) rs140403872
NM_004415.2(DSP):c.5324G>T (p.Arg1775Ile) rs34738426
NM_004415.2(DSP):c.6902T>C (p.Ile2301Thr) rs772381363
NM_004415.2(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.2(DSP):c.928dupG (p.Glu310Glyfs) rs794728137
NM_004415.3(DSP):c.1696G>A (p.Ala566Thr) rs148147581
NM_004415.3(DSP):c.1865T>G (p.Leu622Arg) rs1554107098
NM_004415.3(DSP):c.2432T>C (p.Leu811Pro) rs869025391

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