ClinVar Miner

List of variants in gene COL7A1 studied for Transient bullous dermolysis of the newborn

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp) rs139318843 0.00005
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter) rs761927109 0.00002
NM_000094.4(COL7A1):c.1758del (p.Ser587fs) rs2045631974
NM_000094.4(COL7A1):c.2314+2T>G rs2107771861
NM_000094.4(COL7A1):c.2722C>T (p.Gln908Ter) rs2045393987
NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs) rs1235811820
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs) rs757688782
NM_000094.4(COL7A1):c.3894+1G>A rs2107741719
NM_000094.4(COL7A1):c.4120-1G>C rs1299648939
NM_000094.4(COL7A1):c.4556G>A (p.Gly1519Asp) rs121912835
NM_000094.4(COL7A1):c.4565G>A (p.Gly1522Glu) rs387906605
NM_000094.4(COL7A1):c.4635+1G>A rs774890570
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=) rs1560232515
NM_000094.4(COL7A1):c.5425-1G>A rs112850769
NM_000094.4(COL7A1):c.6023G>A (p.Arg2008His) rs1002845719
NM_000094.4(COL7A1):c.6035G>T (p.Gly2012Val) rs2107674937
NM_000094.4(COL7A1):c.6187C>G (p.Arg2063Gly) rs121912849
NM_000094.4(COL7A1):c.6502-1G>A rs2107665131
NM_000094.4(COL7A1):c.6638G>A (p.Gly2213Glu) rs2107662258
NM_000094.4(COL7A1):c.6751-2_6751-1del rs760460054
NM_000094.4(COL7A1):c.6752G>A (p.Gly2251Glu) rs121912834
NM_000094.4(COL7A1):c.7017C>T (p.Gly2339=) rs1362309822
NM_000094.4(COL7A1):c.8109+1G>T rs1050797523

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