ClinVar Miner

List of variants in gene COL7A1 reported as pathogenic for Epidermolysis bullosa dystrophica inversa, autosomal recessive

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Total variants: 19
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NM_000094.3(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.3(COL7A1):c.4027C>T (p.Arg1343Ter) rs761234904
NM_000094.3(COL7A1):c.425A>G (p.Lys142Arg) rs121912856
NM_000094.3(COL7A1):c.4888C>T (p.Arg1630Ter) rs121912847
NM_000094.3(COL7A1):c.5261dup (p.Gly1755fs) rs1057517723
NM_000094.3(COL7A1):c.5532+1G>A rs767182886
NM_000094.3(COL7A1):c.5797C>T (p.Arg1933Ter) rs757415879
NM_000094.3(COL7A1):c.682+1G>A rs775288140
NM_000094.3(COL7A1):c.6946G>A (p.Gly2316Arg) rs1575430201
NM_000094.3(COL7A1):c.7344G>A (p.Val2448=) rs201728948
NM_000094.3(COL7A1):c.7723G>A (p.Gly2575Arg) rs760891216
NM_000094.3(COL7A1):c.8440C>T (p.Arg2814Ter) rs143457874
NM_000094.3(COL7A1):c.8479C>T (p.Gln2827Ter) rs387906604
NM_000094.4(COL7A1):c.5047C>T rs760063197
NM_000094.4(COL7A1):c.5820G>A rs200972872
NM_000094.4(COL7A1):c.6205C>T rs121912855
NM_000094.4(COL7A1):c.6527dupC rs768128088
NM_000094.4(COL7A1):c.706C>T rs121912854
NM_000094.4(COL7A1):c.887delG rs1131691385

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