ClinVar Miner

List of variants in gene COL7A1 reported as likely benign by Illumina Laboratory Services, Illumina

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000094.4(COL7A1):c.54G>C (p.Ala18=) rs35899847 0.00343
NM_000094.4(COL7A1):c.5154+5T>C rs2854400 0.00317
NM_000094.4(COL7A1):c.4612C>T (p.Arg1538Cys) rs149711883 0.00288
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys) rs2228563 0.00277
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser) rs35623035 0.00276
NM_000094.4(COL7A1):c.5259C>T (p.Pro1753=) rs151261530 0.00267
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=) rs146901730 0.00210
NM_000094.4(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857 0.00141
NM_000094.4(COL7A1):c.3889G>A (p.Glu1297Lys) rs149881350 0.00138
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu) rs140114392 0.00111
NM_000094.4(COL7A1):c.4312G>A (p.Val1438Ile) rs148625586 0.00066
NM_000094.4(COL7A1):c.7008G>A (p.Gly2336=) rs117723065 0.00038
NM_000094.4(COL7A1):c.6357G>A (p.Pro2119=) rs142298581 0.00034
NM_000094.4(COL7A1):c.1527C>T (p.Ser509=) rs78149541 0.00010
NM_000094.4(COL7A1):c.3893G>A (p.Arg1298Lys) rs530442803 0.00001
NM_000094.4(COL7A1):c.*162C>T rs545650545
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=) rs34360255
NM_000094.4(COL7A1):c.7984-7del rs66737445

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