ClinVar Miner

List of variants studied for Epidermolysis bullosa simplex 5B, with muscular dystrophy by OMIM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter) rs387906802 0.00002
NM_201384.3(PLEC):c.11962dup (p.Glu3988fs) rs864309674
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1]) rs786205252
NM_201384.3(PLEC):c.5024_5031del (p.Arg1675fs) rs786205254
NM_201384.3(PLEC):c.5734del (p.Leu1912fs) rs786205253
NM_201384.3(PLEC):c.5775_5782dup (p.Leu1928fs) rs786205251
NM_201384.3(PLEC):c.6088C>T (p.Gln2030Ter) rs387906801

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