ClinVar Miner

List of variants in gene COL6A1 reported as uncertain significance by GeneDx

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Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207 0.00154
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) rs143502850 0.00093
NM_001848.3(COL6A1):c.996C>T (p.Gly332=) rs11702055 0.00080
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln) rs141663473 0.00076
NM_001848.3(COL6A1):c.1708G>A (p.Ala570Thr) rs144358858 0.00070
NM_001848.3(COL6A1):c.1043C>T (p.Ser348Leu) rs142882745 0.00065
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) rs137964147 0.00057
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala) rs144814689 0.00050
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr) rs150378645 0.00038
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158 0.00031
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg) rs141605607 0.00026
NM_001848.3(COL6A1):c.1122C>T (p.Gly374=) rs373535692 0.00024
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp) rs368561027 0.00021
NM_001848.3(COL6A1):c.2662C>T (p.Arg888Trp) rs368307185 0.00018
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile) rs372750707 0.00017
NM_001848.3(COL6A1):c.2899A>G (p.Ile967Val) rs777671647 0.00017
NM_001848.3(COL6A1):c.1712A>C (p.Lys571Thr) rs751040647 0.00015
NM_001848.3(COL6A1):c.2852C>T (p.Thr951Met) rs371111712 0.00015
NM_001848.3(COL6A1):c.2200A>G (p.Thr734Ala) rs562898957 0.00014
NM_001848.3(COL6A1):c.1231G>A (p.Asp411Asn) rs575394639 0.00013
NM_001848.3(COL6A1):c.2041A>G (p.Ile681Val) rs377455608 0.00012
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=) rs762625409 0.00010
NM_001848.3(COL6A1):c.2304G>C (p.Gln768His) rs376567898 0.00010
NM_001848.3(COL6A1):c.2611G>A (p.Val871Met) rs374685631 0.00010
NM_001848.3(COL6A1):c.593C>T (p.Pro198Leu) rs199867193 0.00009
NM_001848.3(COL6A1):c.2192G>A (p.Arg731His) rs777293815 0.00007
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys) rs145849970 0.00007
NM_001848.3(COL6A1):c.1315C>T (p.Arg439Trp) rs368239109 0.00006
NM_001848.3(COL6A1):c.1557G>C (p.Glu519Asp) rs755375448 0.00006
NM_001848.3(COL6A1):c.1829A>C (p.Lys610Thr) rs768906709 0.00006
NM_001848.3(COL6A1):c.2029C>T (p.Arg677Cys) rs189623561 0.00006
NM_001848.3(COL6A1):c.2165G>A (p.Arg722His) rs758242849 0.00006
NM_001848.3(COL6A1):c.2275G>A (p.Val759Met) rs373383488 0.00006
NM_001848.3(COL6A1):c.2653C>T (p.Arg885Cys) rs746298580 0.00006
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile) rs563043611 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln) rs886057155 0.00005
NM_001848.3(COL6A1):c.1555G>A (p.Glu519Lys) rs754384963 0.00004
NM_001848.3(COL6A1):c.3013C>T (p.Arg1005Cys) rs780139552 0.00004
NM_001848.3(COL6A1):c.329G>A (p.Arg110His) rs773139115 0.00004
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn) rs199842980 0.00004
NM_001848.3(COL6A1):c.1534G>A (p.Gly512Ser) rs201153092 0.00003
NM_001848.3(COL6A1):c.1976A>T (p.Tyr659Phe) rs752045107 0.00003
NM_001848.3(COL6A1):c.2512G>A (p.Ala838Thr) rs529770550 0.00003
NM_001848.3(COL6A1):c.3043G>A (p.Gly1015Ser) rs763470078 0.00003
NM_001848.3(COL6A1):c.311C>T (p.Thr104Met) rs781396484 0.00003
NM_001848.3(COL6A1):c.-1C>T rs377142360 0.00002
NM_001848.3(COL6A1):c.1459G>A (p.Glu487Lys) rs779320527 0.00002
NM_001848.3(COL6A1):c.2569G>A (p.Glu857Lys) rs570688674 0.00002
NM_001848.3(COL6A1):c.2890C>T (p.Arg964Trp) rs375007666 0.00002
NM_001848.3(COL6A1):c.2926C>T (p.Arg976Cys) rs376061269 0.00002
NM_001848.3(COL6A1):c.589-6C>A rs1243211161 0.00002
NM_001848.3(COL6A1):c.1297C>T (p.Arg433Trp) rs753297152 0.00001
NM_001848.3(COL6A1):c.1433G>A (p.Arg478Gln) rs776914710 0.00001
NM_001848.3(COL6A1):c.1630G>A (p.Gly544Ser) rs1064794846 0.00001
NM_001848.3(COL6A1):c.2444G>T (p.Cys815Phe) rs536370523 0.00001
NM_001848.3(COL6A1):c.269C>T (p.Ala90Val) rs766517983 0.00001
NM_001848.3(COL6A1):c.2710G>A (p.Val904Ile) rs375831680 0.00001
NM_001848.3(COL6A1):c.2789C>T (p.Ala930Val) rs1226087945 0.00001
NM_001848.3(COL6A1):c.614C>T (p.Thr205Met) rs1343618467 0.00001
NM_001848.3(COL6A1):c.641C>T (p.Thr214Met) rs369123247 0.00001
NM_001848.3(COL6A1):c.776C>T (p.Pro259Leu) rs767905829 0.00001
NM_001848.3(COL6A1):c.911A>G (p.Lys304Arg) rs1064794736 0.00001
NM_001848.3(COL6A1):c.1048G>A (p.Gly350Arg) rs1362441737
NM_001848.3(COL6A1):c.1267G>A (p.Glu423Lys) rs1064796958
NM_001848.3(COL6A1):c.1270C>T (p.Arg424Trp) rs1034465336
NM_001848.3(COL6A1):c.1720C>G (p.Arg574Gly) rs761678568
NM_001848.3(COL6A1):c.1931G>C (p.Arg644Pro) rs398123634
NM_001848.3(COL6A1):c.1963_1971del (p.Pro655_Gln657del)
NM_001848.3(COL6A1):c.197_199del (p.Thr66del) rs2123460277
NM_001848.3(COL6A1):c.1982G>C (p.Gly661Ala) rs771702139
NM_001848.3(COL6A1):c.2093C>T (p.Ala698Val) rs2123490392
NM_001848.3(COL6A1):c.2213C>T (p.Thr738Ile) rs1064796728
NM_001848.3(COL6A1):c.2365G>C (p.Val789Leu) rs2077853945
NM_001848.3(COL6A1):c.2434+5G>T rs1360722232
NM_001848.3(COL6A1):c.2476T>A (p.Ser826Thr) rs1427066240
NM_001848.3(COL6A1):c.2660A>G (p.Glu887Gly) rs794727581
NM_001848.3(COL6A1):c.2666C>T (p.Ala889Val)
NM_001848.3(COL6A1):c.2713G>T (p.Asp905Tyr)
NM_001848.3(COL6A1):c.2821C>T (p.Leu941Phe) rs147882179
NM_001848.3(COL6A1):c.2915T>C (p.Val972Ala) rs1131691418
NM_001848.3(COL6A1):c.328C>G (p.Arg110Gly) rs757632221
NM_001848.3(COL6A1):c.43T>C (p.Cys15Arg)
NM_001848.3(COL6A1):c.590A>G (p.Glu197Gly) rs2123466535
NM_001848.3(COL6A1):c.631C>T (p.Arg211Cys) rs375217284
NM_001848.3(COL6A1):c.775C>A (p.Pro259Thr) rs2077747487
NM_001848.3(COL6A1):c.904-39A>T rs1569518138

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