ClinVar Miner

List of variants in gene COL7A1 reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.2817A>G (p.Pro939=) rs1264194 0.74947
NM_000094.4(COL7A1):c.3830C>T (p.Pro1277Leu) rs35761247 0.03954
NM_000094.4(COL7A1):c.8359-19T>C rs78922394 0.02970
NM_000094.4(COL7A1):c.2314+15G>A rs144483183 0.02210
NM_000094.4(COL7A1):c.3975+11C>T rs7637885 0.01719
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=) rs61729223 0.01181
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys) rs2228563 0.00287
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser) rs35623035 0.00285
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=) rs146901730 0.00220
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=) rs141290741 0.00212
NM_000094.4(COL7A1):c.425A>G (p.Lys142Arg) rs121912856 0.00009
NM_000094.4(COL7A1):c.8440C>T (p.Arg2814Ter) rs143457874 0.00003
NM_000094.4(COL7A1):c.8065G>A (p.Gly2689Arg) rs748940147 0.00002
NM_000094.4(COL7A1):c.2005C>T (p.Arg669Ter) rs780261665 0.00001
NM_000094.4(COL7A1):c.6994C>T (p.Arg2332Ter) rs765027608 0.00001
NM_000094.4(COL7A1):c.7957G>A (p.Gly2653Arg) rs121912851 0.00001
NM_000094.4(COL7A1):c.8138G>A (p.Gly2713Asp) rs369591910 0.00001
NM_000094.4(COL7A1):c.2044C>T (p.Arg682Ter) rs1262422383
NM_000094.4(COL7A1):c.4039G>C (p.Gly1347Arg) rs121912833
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg) rs121912844
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg) rs121912836
NM_000094.4(COL7A1):c.6859G>A (p.Gly2287Arg) rs121912839
NM_000094.4(COL7A1):c.7875+1G>C rs2107637140

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