ClinVar Miner

List of variants in gene COL7A1 reported as benign by Invitae

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Gene type:
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Total variants: 80
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HGVS dbSNP
NM_000094.3(COL7A1):c.1098G>A (p.Gly366=) rs150776274
NM_000094.3(COL7A1):c.1191C>G (p.Thr397=) rs143270071
NM_000094.3(COL7A1):c.1383A>G (p.Val461=) rs112805032
NM_000094.3(COL7A1):c.1527C>T (p.Ser509=) rs78149541
NM_000094.3(COL7A1):c.1628G>A (p.Ser543Asn) rs76410546
NM_000094.3(COL7A1):c.1784C>T (p.Pro595Leu) rs2228561
NM_000094.3(COL7A1):c.1836G>T (p.Thr612=) rs151186709
NM_000094.3(COL7A1):c.2242G>A (p.Glu748Lys) rs148411473
NM_000094.3(COL7A1):c.2314+15G>A rs144483183
NM_000094.3(COL7A1):c.2766C>T (p.Asp922=) rs201424023
NM_000094.3(COL7A1):c.2817A>G (p.Pro939=) rs1264194
NM_000094.3(COL7A1):c.3139+12G>A rs2255532
NM_000094.3(COL7A1):c.3359G>A (p.Arg1120Lys) rs2228563
NM_000094.3(COL7A1):c.3830C>T (p.Pro1277Leu) rs35761247
NM_000094.3(COL7A1):c.3889G>A (p.Glu1297Lys) rs149881350
NM_000094.3(COL7A1):c.3975+11C>T rs7637885
NM_000094.3(COL7A1):c.4068C>T (p.Ile1356=) rs146913953
NM_000094.3(COL7A1):c.4373C>T (p.Pro1458Leu) rs79378857
NM_000094.3(COL7A1):c.4483-11T>C rs74390291
NM_000094.3(COL7A1):c.4517G>A (p.Arg1506Gln) rs372793584
NM_000094.3(COL7A1):c.4560T>A (p.Pro1520=) rs142686837
NM_000094.3(COL7A1):c.4613G>A (p.Arg1538His) rs2229824
NM_000094.3(COL7A1):c.4722+11C>T rs145729790
NM_000094.3(COL7A1):c.5125-6C>T rs372345936
NM_000094.3(COL7A1):c.5259C>T (p.Pro1753=) rs151261530
NM_000094.3(COL7A1):c.5307+7G>C rs116455408
NM_000094.3(COL7A1):c.5343C>T (p.Ser1781=) rs147919436
NM_000094.3(COL7A1):c.54G>C (p.Ala18=) rs35899847
NM_000094.3(COL7A1):c.5590G>A (p.Ala1864Thr) rs17080261
NM_000094.3(COL7A1):c.5778C>T (p.Leu1926=) rs113151410
NM_000094.3(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939
NM_000094.3(COL7A1):c.5910C>T (p.Phe1970=) rs141290741
NM_000094.3(COL7A1):c.5988C>T (p.Ile1996=) rs146901730
NM_000094.3(COL7A1):c.6081C>T (p.Pro2027=) rs375047225
NM_000094.3(COL7A1):c.6090C>T (p.Ser2030=) rs200360245
NM_000094.3(COL7A1):c.6217-6C>T rs191559835
NM_000094.3(COL7A1):c.630C>T (p.Leu210=) rs117857033
NM_000094.3(COL7A1):c.6357G>A (p.Pro2119=) rs142298581
NM_000094.3(COL7A1):c.6500C>T (p.Pro2167Leu) rs200473808
NM_000094.3(COL7A1):c.6502-10C>G rs200193957
NM_000094.3(COL7A1):c.6654C>G (p.Gly2218=) rs151111203
NM_000094.3(COL7A1):c.6696C>A (p.Pro2232=) rs61729223
NM_000094.3(COL7A1):c.683-8A>G rs113167762
NM_000094.3(COL7A1):c.6937-9C>G rs143589222
NM_000094.3(COL7A1):c.7008G>A (p.Gly2336=) rs117723065
NM_000094.3(COL7A1):c.7191C>A (p.Pro2397=) rs34360255
NM_000094.3(COL7A1):c.7286C>T (p.Pro2429Leu) rs2229822
NM_000094.3(COL7A1):c.7313C>G (p.Pro2438Arg) rs185142403
NM_000094.3(COL7A1):c.7353T>C (p.Pro2451=) rs139461888
NM_000094.3(COL7A1):c.7674C>T (p.Asp2558=) rs201140493
NM_000094.3(COL7A1):c.7687-6C>T rs200429526
NM_000094.3(COL7A1):c.7984-7del rs66737445
NM_000094.3(COL7A1):c.802C>T (p.Pro268Ser) rs35623035
NM_000094.3(COL7A1):c.8047-4C>T rs185429200
NM_000094.3(COL7A1):c.8094C>T (p.Gly2698=) rs199936185
NM_000094.3(COL7A1):c.8305-20G>C rs17256786
NM_000094.3(COL7A1):c.8472C>T (p.Ala2824=) rs116591500
NM_000094.3(COL7A1):c.8504G>A (p.Arg2835His) rs139014122
NM_000094.3(COL7A1):c.8524_8527+10del rs566181351
NM_000094.3(COL7A1):c.8568C>T (p.Ser2856=) rs148454724
NM_000094.3(COL7A1):c.8620+18_8620+19insGCC rs138595277
NM_000094.3(COL7A1):c.89C>T (p.Thr30Ile) rs74453879
NM_000094.4(COL7A1):c.1907G>T rs116005007
NM_000094.4(COL7A1):c.2441-18G>A
NM_000094.4(COL7A1):c.3759+16C>T
NM_000094.4(COL7A1):c.3786+15G>A
NM_000094.4(COL7A1):c.4342-18C>A
NM_000094.4(COL7A1):c.4612C>T (p.Arg1538Cys) rs149711883
NM_000094.4(COL7A1):c.5125-10C>T
NM_000094.4(COL7A1):c.5568+15C>G
NM_000094.4(COL7A1):c.5737-17G>T
NM_000094.4(COL7A1):c.5913G>T rs754578634
NM_000094.4(COL7A1):c.6279+6C>T
NM_000094.4(COL7A1):c.6715-18C>T
NM_000094.4(COL7A1):c.6937-12_6937-11dup
NM_000094.4(COL7A1):c.6937-12dup
NM_000094.4(COL7A1):c.7191C>T rs34360255
NM_000094.4(COL7A1):c.7930-19C>G
NM_000094.4(COL7A1):c.8359-19T>C
NM_000094.4(COL7A1):c.8408-6C>A

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