ClinVar Miner

List of variants studied for Recessive dystrophic epidermolysis bullosa by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.266+2T>C rs561997536 0.00013
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00008
NM_000094.4(COL7A1):c.8323G>A (p.Gly2775Ser) rs1333259313 0.00002
NM_000094.4(COL7A1):c.1304G>A (p.Trp435Ter) rs375539799 0.00001
NM_000094.4(COL7A1):c.5108G>A (p.Gly1703Glu) rs770304825 0.00001
NM_000094.4(COL7A1):c.6187C>T (p.Arg2063Trp) rs121912849 0.00001
NM_000094.4(COL7A1):c.6205C>T (p.Arg2069Cys) rs121912855 0.00001
NM_000094.4(COL7A1):c.8393T>A (p.Met2798Lys) rs121912828 0.00001
NM_000094.4(COL7A1):c.2305_2314delinsTT (p.Val769fs) rs2045526309
NM_000094.4(COL7A1):c.2308_2314+1del
NM_000094.4(COL7A1):c.2858-1G>A rs2531234929
NM_000094.4(COL7A1):c.4039G>T (p.Gly1347Trp) rs121912833
NM_000094.4(COL7A1):c.4811G>A (p.Gly1604Glu)
NM_000094.4(COL7A1):c.6574-2A>G
NM_000094.4(COL7A1):c.6647G>A (p.Gly2216Glu) rs781720055
NM_000094.4(COL7A1):c.6751-2_6751-1del rs760460054
NM_000094.4(COL7A1):c.7097G>C (p.Gly2366Ala) rs2043899331
NM_000094.4(COL7A1):c.7270C>T (p.Arg2424Trp) rs1189942401
NM_000094.4(COL7A1):c.7723G>T (p.Gly2575Trp) rs760891216
NM_000094.4(COL7A1):c.7931G>A (p.Gly2644Glu)
NM_000094.4(COL7A1):c.8246G>A (p.Gly2749Glu) rs2107631988
NM_000094.4(COL7A1):c.8335G>T (p.Glu2779Ter)
NM_000094.4(COL7A1):c.8569G>T (p.Glu2857Ter) rs372166543

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