ClinVar Miner

List of variants in gene COL6A3 studied for Collagen VI-related myopathy

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Gene type:
ClinVar version:
Total variants: 223
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HGVS dbSNP
NM_004369.3(COL6A3):c.*285A>G rs545556564
NM_004369.3(COL6A3):c.*377C>T rs557107413
NM_004369.3(COL6A3):c.*426G>A rs574954721
NM_004369.3(COL6A3):c.*606A>T rs7436
NM_004369.3(COL6A3):c.*663T>G rs184900191
NM_004369.3(COL6A3):c.*665G>T rs1050785
NM_004369.3(COL6A3):c.*754T>A rs886055801
NM_004369.3(COL6A3):c.*7G>C rs4663722
NM_004369.3(COL6A3):c.*90C>T rs886055802
NM_004369.3(COL6A3):c.-115G>A rs539393683
NM_004369.3(COL6A3):c.-147G>A rs113567254
NM_004369.3(COL6A3):c.-164T>G rs78466992
NM_004369.3(COL6A3):c.1024G>A (p.Val342Met) rs111402193
NM_004369.3(COL6A3):c.1063G>A (p.Ala355Thr) rs375022162
NM_004369.3(COL6A3):c.1131C>T (p.Phe377=) rs189772397
NM_004369.3(COL6A3):c.1182C>T (p.Thr394=) rs114750216
NM_004369.3(COL6A3):c.1208C>T (p.Pro403Leu) rs547651808
NM_004369.3(COL6A3):c.1216C>T (p.Arg406Cys) rs112817175
NM_004369.3(COL6A3):c.1228G>A (p.Asp410Asn) rs35914491
NM_004369.3(COL6A3):c.1231C>G (p.Leu411Val) rs113716915
NM_004369.3(COL6A3):c.1248G>A (p.Leu416=) rs150219857
NM_004369.3(COL6A3):c.1264G>A (p.Val422Met) rs114511558
NM_004369.3(COL6A3):c.1313-7C>T rs764201905
NM_004369.3(COL6A3):c.1389C>T (p.Ala463=) rs112896869
NM_004369.3(COL6A3):c.1471G>C (p.Asp491His) rs112010940
NM_004369.3(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824
NM_004369.3(COL6A3):c.1478T>C (p.Val493Ala) rs116794756
NM_004369.3(COL6A3):c.1538G>A (p.Arg513Gln) rs139498556
NM_004369.3(COL6A3):c.1557C>T (p.Asp519=) rs145586177
NM_004369.3(COL6A3):c.1562C>T (p.Ser521Leu) rs115881121
NM_004369.3(COL6A3):c.1574C>T (p.Thr525Met) rs755178814
NM_004369.3(COL6A3):c.1623C>T (p.Ala541=) rs114144694
NM_004369.3(COL6A3):c.1638C>T (p.Ala546=) rs112040282
NM_004369.3(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396
NM_004369.3(COL6A3):c.1761C>T (p.Ala587=) rs34978064
NM_004369.3(COL6A3):c.1770T>C (p.Ala590=) rs774234847
NM_004369.3(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127
NM_004369.3(COL6A3):c.1791C>T (p.Phe597=) rs76576170
NM_004369.3(COL6A3):c.1914G>A (p.Arg638=) rs34904623
NM_004369.3(COL6A3):c.1975C>T (p.Arg659Cys) rs146291186
NM_004369.3(COL6A3):c.1976G>A (p.Arg659His) rs36092870
NM_004369.3(COL6A3):c.1996G>A (p.Val666Ile) rs111584250
NM_004369.3(COL6A3):c.2027T>G (p.Ile676Ser) rs771749492
NM_004369.3(COL6A3):c.2030G>A (p.Arg677His) rs35227432
NM_004369.3(COL6A3):c.2147G>A (p.Gly716Asp) rs144514259
NM_004369.3(COL6A3):c.2189A>G (p.His730Arg) rs760976593
NM_004369.3(COL6A3):c.2205C>T (p.Gly735=) rs148713779
NM_004369.3(COL6A3):c.2231C>T (p.Pro744Leu) rs199504304
NM_004369.3(COL6A3):c.2253A>G (p.Thr751=) rs886055809
NM_004369.3(COL6A3):c.2292C>T (p.Asn764=) rs116066149
NM_004369.3(COL6A3):c.2305G>A (p.Ala769Thr) rs142719863
NM_004369.3(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945
NM_004369.3(COL6A3):c.2463T>C (p.Ser821=) rs115387170
NM_004369.3(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.3(COL6A3):c.2529C>T (p.Asp843=) rs556079869
NM_004369.3(COL6A3):c.2756C>T (p.Ala919Val) rs115327470
NM_004369.3(COL6A3):c.292A>T (p.Thr98Ser) rs76646066
NM_004369.3(COL6A3):c.3009A>T (p.Gly1003=) rs769667715
NM_004369.3(COL6A3):c.3054C>T (p.Asn1018=) rs34367758
NM_004369.3(COL6A3):c.3087C>T (p.Asp1029=) rs113066678
NM_004369.3(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077
NM_004369.3(COL6A3):c.3129C>T (p.Gly1043=) rs12622093
NM_004369.3(COL6A3):c.3190C>T (p.Arg1064Trp) rs369810455
NM_004369.3(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391
NM_004369.3(COL6A3):c.3205G>A (p.Val1069Met) rs115297652
NM_004369.3(COL6A3):c.3235G>A (p.Glu1079Lys) rs762778512
NM_004369.3(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521
NM_004369.3(COL6A3):c.3270C>T (p.Asp1090=) rs113781746
NM_004369.3(COL6A3):c.3286C>T (p.Arg1096Cys) rs114852262
NM_004369.3(COL6A3):c.3324C>T (p.Thr1108=) rs116239777
NM_004369.3(COL6A3):c.3371C>T (p.Ala1124Val) rs374447921
NM_004369.3(COL6A3):c.3412G>A (p.Val1138Ile) rs199964760
NM_004369.3(COL6A3):c.3420G>A (p.Thr1140=) rs35489467
NM_004369.3(COL6A3):c.3445C>T (p.Arg1149Trp) rs113360085
NM_004369.3(COL6A3):c.34G>A (p.Val12Ile) rs137910388
NM_004369.3(COL6A3):c.3714C>T (p.Ile1238=) rs150911180
NM_004369.3(COL6A3):c.3732C>T (p.Ala1244=) rs193265138
NM_004369.3(COL6A3):c.3751G>A (p.Val1251Ile) rs199646208
NM_004369.3(COL6A3):c.3795C>A (p.Gly1265=) rs886055808
NM_004369.3(COL6A3):c.3844G>A (p.Val1282Met) rs535661345
NM_004369.3(COL6A3):c.3852C>A (p.Phe1284Leu) rs148561729
NM_004369.3(COL6A3):c.3862G>A (p.Ala1288Thr) rs761799119
NM_004369.3(COL6A3):c.3879T>G (p.Asp1293Glu) rs74425496
NM_004369.3(COL6A3):c.3901C>T (p.Arg1301Trp) rs150430813
NM_004369.3(COL6A3):c.4032G>A (p.Ser1344=) rs145048734
NM_004369.3(COL6A3):c.4047C>T (p.Asp1349=) rs115893145
NM_004369.3(COL6A3):c.4103C>T (p.Thr1368Met) rs116505603
NM_004369.3(COL6A3):c.4107C>T (p.Ile1369=) rs35114079
NM_004369.3(COL6A3):c.4108G>T (p.Ala1370Ser) rs372234605
NM_004369.3(COL6A3):c.410G>A (p.Arg137Gln) rs779126378
NM_004369.3(COL6A3):c.4117G>A (p.Ala1373Thr) rs112181324
NM_004369.3(COL6A3):c.414C>T (p.Ala138=) rs148996231
NM_004369.3(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501
NM_004369.3(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605
NM_004369.3(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723
NM_004369.3(COL6A3):c.4285+9G>A rs75780727
NM_004369.3(COL6A3):c.4311T>C (p.Ile1437=) rs2646260
NM_004369.3(COL6A3):c.4503C>T (p.Asp1501=) rs115551245
NM_004369.3(COL6A3):c.4533G>T (p.Gly1511=) rs2645774
NM_004369.3(COL6A3):c.461C>T (p.Ser154Leu) rs147701785
NM_004369.3(COL6A3):c.466G>T (p.Asp156Tyr) rs199632952
NM_004369.3(COL6A3):c.4683G>A (p.Gln1561=) rs113074898
NM_004369.3(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839
NM_004369.3(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885
NM_004369.3(COL6A3):c.489G>A (p.Ala163=) rs148970984
NM_004369.3(COL6A3):c.4900+9C>T rs117345850
NM_004369.3(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958
NM_004369.3(COL6A3):c.4935T>C (p.Asp1645=) rs767560639
NM_004369.3(COL6A3):c.5059C>T (p.Pro1687Ser) rs35273032
NM_004369.3(COL6A3):c.5100G>A (p.Arg1700=) rs34340053
NM_004369.3(COL6A3):c.5179C>T (p.Arg1727Trp) rs143074017
NM_004369.3(COL6A3):c.5252C>T (p.Thr1751Met) rs201147199
NM_004369.3(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596
NM_004369.3(COL6A3):c.5470C>T (p.Leu1824Phe) rs114131542
NM_004369.3(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193
NM_004369.3(COL6A3):c.5619C>T (p.His1873=) rs146355600
NM_004369.3(COL6A3):c.5635G>A (p.Gly1879Ser) rs760603443
NM_004369.3(COL6A3):c.5646G>T (p.Ser1882=) rs886055807
NM_004369.3(COL6A3):c.5652C>T (p.Thr1884=) rs200285455
NM_004369.3(COL6A3):c.5655G>C (p.Val1885=) rs756468711
NM_004369.3(COL6A3):c.5778G>A (p.Thr1926=) rs555406717
NM_004369.3(COL6A3):c.5833G>A (p.Val1945Met) rs113332380
NM_004369.3(COL6A3):c.5833G>C (p.Val1945Leu) rs113332380
NM_004369.3(COL6A3):c.5838+12C>A rs117734465
NM_004369.3(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544
NM_004369.3(COL6A3):c.6063+13dupT rs11385011
NM_004369.3(COL6A3):c.6064-6C>T rs202091342
NM_004369.3(COL6A3):c.6156+4C>T rs111228504
NM_004369.3(COL6A3):c.6174C>T (p.Asp2058=) rs777351827
NM_004369.3(COL6A3):c.6211-23_6211-14delAATGCCTTTGinsTTTTGC rs886055806
NM_004369.3(COL6A3):c.6211-3C>T rs139622600
NM_004369.3(COL6A3):c.6369G>A (p.Leu2123=) rs2646254
NM_004369.3(COL6A3):c.6618C>T (p.Pro2206=) rs201814201
NM_004369.3(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715
NM_004369.3(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555
NM_004369.3(COL6A3):c.6852C>T (p.Ile2284=) rs374952003
NM_004369.3(COL6A3):c.6855G>C (p.Gly2285=) rs3790993
NM_004369.3(COL6A3):c.6868C>T (p.Arg2290Cys) rs116608946
NM_004369.3(COL6A3):c.6878C>T (p.Thr2293Met) rs759657526
NM_004369.3(COL6A3):c.6879+15C>T rs368631950
NM_004369.3(COL6A3):c.6945C>T (p.Phe2315=) rs2646265
NM_004369.3(COL6A3):c.6972C>T (p.Asn2324=) rs113961575
NM_004369.3(COL6A3):c.6981A>G (p.Glu2327=) rs35993209
NM_004369.3(COL6A3):c.7007C>T (p.Pro2336Leu) rs202092407
NM_004369.3(COL6A3):c.7029+10C>T rs376525317
NM_004369.3(COL6A3):c.7086A>C (p.Gly2362=) rs35902696
NM_004369.3(COL6A3):c.7163-2A>G
NM_004369.3(COL6A3):c.7175-11A>G rs373913396
NM_004369.3(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484
NM_004369.3(COL6A3):c.7308G>A (p.Glu2436=) rs750552221
NM_004369.3(COL6A3):c.730A>G (p.Ile244Val) rs116729313
NM_004369.3(COL6A3):c.7329C>T (p.Ala2443=) rs10084221
NM_004369.3(COL6A3):c.7401G>A (p.Ser2467=) rs377572272
NM_004369.3(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335
NM_004369.3(COL6A3):c.7502G>A (p.Arg2501His) rs541928674
NM_004369.3(COL6A3):c.7509G>A (p.Arg2503=) rs34181055
NM_004369.3(COL6A3):c.7512C>T (p.Asn2504=) rs2646258
NM_004369.3(COL6A3):c.7596G>A (p.Lys2532=) rs2291795
NM_004369.3(COL6A3):c.759C>T (p.Thr253=) rs376087730
NM_004369.3(COL6A3):c.7607C>T (p.Ala2536Val) rs769072338
NM_004369.3(COL6A3):c.7645C>T (p.Arg2549Trp) rs151079701
NM_004369.3(COL6A3):c.7649A>C (p.Gln2550Pro) rs886055805
NM_004369.3(COL6A3):c.7685T>C (p.Val2562Ala) rs143631346
NM_004369.3(COL6A3):c.768C>T (p.Val256=) rs79606264
NM_004369.3(COL6A3):c.7691A>T (p.His2564Leu) rs886055804
NM_004369.3(COL6A3):c.7755T>C (p.His2585=) rs145581705
NM_004369.3(COL6A3):c.775G>A (p.Ala259Thr) rs141609058
NM_004369.3(COL6A3):c.776C>T (p.Ala259Val) rs149924028
NM_004369.3(COL6A3):c.7779C>T (p.Ile2593=) rs144249704
NM_004369.3(COL6A3):c.7842C>T (p.Ser2614=) rs34558385
NM_004369.3(COL6A3):c.786C>T (p.Leu262=) rs111481402
NM_004369.3(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697
NM_004369.3(COL6A3):c.7929G>A (p.Ala2643=) rs4433949
NM_004369.3(COL6A3):c.7995A>C (p.Ala2665=) rs80193928
NM_004369.3(COL6A3):c.8007C>T (p.His2669=) rs528369978
NM_004369.3(COL6A3):c.8010G>A (p.Ala2670=) rs79313758
NM_004369.3(COL6A3):c.8050A>C (p.Lys2684Gln) rs886055803
NM_004369.3(COL6A3):c.8097G>A (p.Val2699=) rs115757876
NM_004369.3(COL6A3):c.8137A>G (p.Arg2713Gly) rs772602377
NM_004369.3(COL6A3):c.8145A>G (p.Leu2715=) rs35763271
NM_004369.3(COL6A3):c.8168T>C (p.Ile2723Thr) rs373108028
NM_004369.3(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455
NM_004369.3(COL6A3):c.8189C>T (p.Ala2730Val) rs138466455
NM_004369.3(COL6A3):c.8193A>C (p.Pro2731=) rs140441798
NM_004369.3(COL6A3):c.8243C>T (p.Pro2748Leu) rs115595706
NM_004369.3(COL6A3):c.8346G>A (p.Glu2782=) rs35911211
NM_004369.3(COL6A3):c.8385C>T (p.Phe2795=) rs201460305
NM_004369.3(COL6A3):c.8451A>G (p.Pro2817=) rs61729844
NM_004369.3(COL6A3):c.8465-7delT rs111494366
NM_004369.3(COL6A3):c.8491G>C (p.Asp2831His) rs36104025
NM_004369.3(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552
NM_004369.3(COL6A3):c.8632A>G (p.Thr2878Ala) rs761653490
NM_004369.3(COL6A3):c.8636C>T (p.Thr2879Met) rs150907698
NM_004369.3(COL6A3):c.8725G>A (p.Ala2909Thr) rs201917052
NM_004369.3(COL6A3):c.8735C>T (p.Pro2912Leu) rs112928650
NM_004369.3(COL6A3):c.8745G>A (p.Ala2915=) rs112382351
NM_004369.3(COL6A3):c.8780T>C (p.Met2927Thr) rs6728818
NM_004369.3(COL6A3):c.8804C>T (p.Ala2935Val) rs36020669
NM_004369.3(COL6A3):c.8819C>T (p.Thr2940Met) rs200626456
NM_004369.3(COL6A3):c.8820G>A (p.Thr2940=) rs11683438
NM_004369.3(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206
NM_004369.3(COL6A3):c.882C>T (p.Phe294=) rs7561625
NM_004369.3(COL6A3):c.8877_8879delTGC (p.Ala2960del) rs35879189
NM_004369.3(COL6A3):c.8962A>G (p.Met2988Val) rs11690358
NM_004369.3(COL6A3):c.9017A>G (p.Lys3006Arg) rs2270668
NM_004369.3(COL6A3):c.9034G>C (p.Ala3012Pro) rs2270669
NM_004369.3(COL6A3):c.9069C>T (p.Thr3023=) rs111234422
NM_004369.3(COL6A3):c.91+11G>C rs372744024
NM_004369.3(COL6A3):c.91+15C>T rs117521066
NM_004369.3(COL6A3):c.9123G>A (p.Thr3041=) rs61729843
NM_004369.3(COL6A3):c.9128G>A (p.Arg3043His) rs552651651
NM_004369.3(COL6A3):c.9129C>T (p.Arg3043=) rs10201909
NM_004369.3(COL6A3):c.9147C>T (p.Leu3049=) rs183247300
NM_004369.3(COL6A3):c.9148G>A (p.Ala3050Thr) rs114596320
NM_004369.3(COL6A3):c.9206C>T (p.Thr3069Ile) rs1131296
NM_004369.3(COL6A3):c.9213C>T (p.His3071=) rs2270671
NM_004369.3(COL6A3):c.9245C>G (p.Pro3082Arg) rs182976977
NM_004369.3(COL6A3):c.9329-4A>T rs199800564
NM_004369.3(COL6A3):c.9351C>T (p.Asp3117=) rs148821986
NM_004369.3(COL6A3):c.9411T>C (p.Cys3137=) rs112290343
NM_004369.3(COL6A3):c.9494-10C>T rs184617787
NM_004369.3(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839
NM_004369.3(COL6A3):c.958G>A (p.Ala320Thr) rs115819851

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