ClinVar Miner

Variants in gene COL7A1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 44
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HGVS dbSNP gnomAD frequency
NM_000094.4(COL7A1):c.89C>T (p.Thr30Ile) rs74453879 0.01453
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=) rs61729223 0.01181
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000094.4(COL7A1):c.4613G>A (p.Arg1538His) rs2229824 0.00408
NM_000094.4(COL7A1):c.54G>C (p.Ala18=) rs35899847 0.00343
NM_000094.4(COL7A1):c.6654C>G (p.Gly2218=) rs151111203 0.00322
NM_000094.4(COL7A1):c.8472C>T (p.Ala2824=) rs116591500 0.00322
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 0.00287
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser) rs35623035 0.00285
NM_000094.4(COL7A1):c.5259C>T (p.Pro1753=) rs151261530 0.00267
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.4373C>T (p.Pro1458Leu) rs79378857 0.00150
NM_000094.4(COL7A1):c.3889G>A (p.Glu1297Lys) rs149881350 0.00138
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=) rs139521707 0.00121
NM_000094.4(COL7A1):c.6090C>T (p.Ser2030=) rs200360245 0.00121
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu) rs140114392 0.00113
NM_000094.4(COL7A1):c.5388+20C>T rs200931039 0.00101
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
NM_000094.4(COL7A1):c.1191C>G (p.Thr397=) rs143270071 0.00096
NM_000094.4(COL7A1):c.2242G>A (p.Glu748Lys) rs148411473 0.00095
NM_000094.4(COL7A1):c.7353T>C (p.Pro2451=) rs139461888 0.00077
NM_000094.4(COL7A1):c.4312G>A (p.Val1438Ile) rs148625586 0.00066
NM_000094.4(COL7A1):c.1098G>A (p.Gly366=) rs150776274 0.00055
NM_000094.4(COL7A1):c.5572G>A (p.Glu1858Lys) rs147633212 0.00050
NM_000094.4(COL7A1):c.3611C>T (p.Ala1204Val) rs144825552 0.00044
NM_000094.4(COL7A1):c.1985A>G (p.Gln662Arg) rs139622306 0.00043
NM_000094.4(COL7A1):c.1836G>T (p.Thr612=) rs151186709 0.00035
NM_000094.4(COL7A1):c.8047-4C>T rs185429200 0.00029
NM_000094.4(COL7A1):c.5125-10C>T rs768482060 0.00024
NM_000094.4(COL7A1):c.6502-10C>G rs200193957 0.00018
NM_000094.4(COL7A1):c.8094C>T (p.Gly2698=) rs199936185 0.00011
NM_000094.4(COL7A1):c.6500C>T (p.Pro2167Leu) rs200473808 0.00010
NM_000094.4(COL7A1):c.4560T>A (p.Pro1520=) rs142686837 0.00006
NM_000094.4(COL7A1):c.4719A>G (p.Glu1573=) rs558405095 0.00006
NM_000094.4(COL7A1):c.2050+16C>T rs749425003 0.00001
NM_000094.4(COL7A1):c.4818+18T>A rs368227259 0.00001
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=) rs34360255
NM_000094.4(COL7A1):c.7191C>T (p.Pro2397=) rs34360255
NM_000094.4(COL7A1):c.7984-7del rs66737445
NM_000094.4(COL7A1):c.8524_8527+10del rs566181351
NM_000094.4(COL7A1):c.8620+18_8620+19insCGC rs138595277

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