ClinVar Miner

List of variants in gene DSP reported as pathogenic for Epidermolysis bullosa, lethal acantholytic

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Total variants: 4
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HGVS dbSNP
NM_004415.4(DSP):c.2876_2877+3del rs730880023
NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter) rs121912996
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.7248del (p.Phe2416fs) rs730880024

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