ClinVar Miner

List of variants in gene COL6A1 studied for Collagen VI-related myopathy

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Gene type:
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Total variants: 141
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HGVS dbSNP
NM_001848.2(COL6A1):c.*13G>A rs376729246
NM_001848.2(COL6A1):c.*145C>T rs183023506
NM_001848.2(COL6A1):c.*182A>G rs886057159
NM_001848.2(COL6A1):c.*199A>G rs117826437
NM_001848.2(COL6A1):c.*260A>G rs1053331
NM_001848.2(COL6A1):c.*294G>A rs112057581
NM_001848.2(COL6A1):c.*302G>T rs538359005
NM_001848.2(COL6A1):c.*343G>A rs554489309
NM_001848.2(COL6A1):c.*367C>A rs546403892
NM_001848.2(COL6A1):c.*379C>A rs138073264
NM_001848.2(COL6A1):c.*419A>G rs9254
NM_001848.2(COL6A1):c.*441G>A rs149531381
NM_001848.2(COL6A1):c.*526C>T rs866939049
NM_001848.2(COL6A1):c.*558_*560delCTC rs886057160
NM_001848.2(COL6A1):c.*575A>G rs183666840
NM_001848.2(COL6A1):c.*633T>C rs886057161
NM_001848.2(COL6A1):c.*635G>A rs886057162
NM_001848.2(COL6A1):c.*63_*64delAG rs886057158
NM_001848.2(COL6A1):c.*648C>T rs755204063
NM_001848.2(COL6A1):c.*729C>T rs201623355
NM_001848.2(COL6A1):c.*754C>T rs886057163
NM_001848.2(COL6A1):c.*785C>T rs557900713
NM_001848.2(COL6A1):c.*797C>T rs576240028
NM_001848.2(COL6A1):c.*814C>T rs886057164
NM_001848.2(COL6A1):c.*851T>C rs886057165
NM_001848.2(COL6A1):c.*87C>T rs115289817
NM_001848.2(COL6A1):c.*887C>T rs142905348
NM_001848.2(COL6A1):c.*940C>T rs545323453
NM_001848.2(COL6A1):c.*985C>T rs778917156
NM_001848.2(COL6A1):c.-103C>A rs568728524
NM_001848.2(COL6A1):c.-5C>G rs7671
NM_001848.2(COL6A1):c.-65C>G rs535807983
NM_001848.2(COL6A1):c.-76G>A rs886057148
NM_001848.2(COL6A1):c.1043C>T (p.Ser348Leu) rs142882745
NM_001848.2(COL6A1):c.1056C>T (p.Asp352=) rs116343553
NM_001848.2(COL6A1):c.105C>G (p.Pro35=) rs145579577
NM_001848.2(COL6A1):c.1095T>C (p.Gly365=) rs1980982
NM_001848.2(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158
NM_001848.2(COL6A1):c.1120-12G>A rs115107397
NM_001848.2(COL6A1):c.1179C>T (p.Asp393=) rs182068143
NM_001848.2(COL6A1):c.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.1208C>G (p.Pro403Arg) rs886057151
NM_001848.2(COL6A1):c.1209C>G (p.Pro403=) rs763249073
NM_001848.2(COL6A1):c.1254C>T (p.Asp418=) rs148630223
NM_001848.2(COL6A1):c.1255G>A (p.Gly419Ser) rs745485695
NM_001848.2(COL6A1):c.1273-8C>T rs7280215
NM_001848.2(COL6A1):c.1277G>A (p.Gly426Asp) rs886057152
NM_001848.2(COL6A1):c.1298G>A (p.Arg433Gln) rs151158105
NM_001848.2(COL6A1):c.1314G>A (p.Thr438=) rs7279254
NM_001848.2(COL6A1):c.1316G>A (p.Arg439Gln) rs35059000
NM_001848.2(COL6A1):c.1336-15C>T rs201003020
NM_001848.2(COL6A1):c.1342G>A (p.Ala448Thr) rs886057153
NM_001848.2(COL6A1):c.1349C>T (p.Pro450Leu) rs759834554
NM_001848.2(COL6A1):c.1398+10G>A rs143438559
NM_001848.2(COL6A1):c.1399-3C>T rs200095847
NM_001848.2(COL6A1):c.1443G>A (p.Glu481=) rs80244281
NM_001848.2(COL6A1):c.1475C>T (p.Ala492Val) rs117340427
NM_001848.2(COL6A1):c.1506G>C (p.Pro502=) rs139987124
NM_001848.2(COL6A1):c.1524+15G>A rs116000285
NM_001848.2(COL6A1):c.1553C>A (p.Thr518Asn) rs201935658
NM_001848.2(COL6A1):c.1555G>A (p.Glu519Lys) rs754384963
NM_001848.2(COL6A1):c.1584G>A (p.Pro528=) rs139243418
NM_001848.2(COL6A1):c.1611C>T (p.Asn537=) rs200023632
NM_001848.2(COL6A1):c.1612-15C>G rs886057154
NM_001848.2(COL6A1):c.1671C>T (p.Asp557=) rs770099663
NM_001848.2(COL6A1):c.1694G>A (p.Arg565Gln) rs886057155
NM_001848.2(COL6A1):c.170C>A (p.Ala57Asp) rs143502850
NM_001848.2(COL6A1):c.1741-13G>A rs201063714
NM_001848.2(COL6A1):c.1770G>A (p.Gly590=) rs752980359
NM_001848.2(COL6A1):c.1773G>A (p.Pro591=) rs74852641
NM_001848.2(COL6A1):c.1776+13C>T rs201734661
NM_001848.2(COL6A1):c.1776C>T (p.Asp592=) rs148439285
NM_001848.2(COL6A1):c.1814-6C>G rs182804464
NM_001848.2(COL6A1):c.1823-13C>T rs571173076
NM_001848.2(COL6A1):c.1823-8G>A rs184666690
NM_001848.2(COL6A1):c.1890C>T (p.Asn630=) rs886057156
NM_001848.2(COL6A1):c.1956+15C>T rs11701124
NM_001848.2(COL6A1):c.1957-11C>T rs8132521
NM_001848.2(COL6A1):c.1957-5C>T rs78224483
NM_001848.2(COL6A1):c.1980G>A (p.Ala660=) rs370780432
NM_001848.2(COL6A1):c.2019C>G (p.His673Gln) rs141424786
NM_001848.2(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734
NM_001848.2(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954
NM_001848.2(COL6A1):c.2061C>A (p.Leu687=) rs8132678
NM_001848.2(COL6A1):c.2067-10T>C rs200727020
NM_001848.2(COL6A1):c.2130G>A (p.Thr710=) rs147219060
NM_001848.2(COL6A1):c.2156C>T (p.Pro719Leu) rs753759904
NM_001848.2(COL6A1):c.2191C>T (p.Arg731Cys) rs398123635
NM_001848.2(COL6A1):c.2220G>A (p.Pro740=) rs138976133
NM_001848.2(COL6A1):c.2250+6G>C rs202212586
NM_001848.2(COL6A1):c.2348G>A (p.Arg783Gln) rs200261890
NM_001848.2(COL6A1):c.2355C>A (p.Gly785=) rs149910296
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His) rs140547835
NM_001848.2(COL6A1):c.2434+15A>G rs2236485
NM_001848.2(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518
NM_001848.2(COL6A1):c.2469G>A (p.Thr823=) rs146662894
NM_001848.2(COL6A1):c.2548C>A (p.Arg850Ser) rs566453317
NM_001848.2(COL6A1):c.2549G>A (p.Arg850His) rs1053312
NM_001848.2(COL6A1):c.2595G>A (p.Thr865=) rs367832752
NM_001848.2(COL6A1):c.261C>T (p.Asn87=) rs770671793
NM_001848.2(COL6A1):c.2622G>A (p.Ala874=) rs371763977
NM_001848.2(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207
NM_001848.2(COL6A1):c.2637C>T (p.Ser879=) rs540554122
NM_001848.2(COL6A1):c.2642C>T (p.Thr881Met) rs150432347
NM_001848.2(COL6A1):c.2662C>T (p.Arg888Trp) rs368307185
NM_001848.2(COL6A1):c.2667G>A (p.Ala889=) rs1053315
NM_001848.2(COL6A1):c.2669C>T (p.Ser890Leu) rs13051496
NM_001848.2(COL6A1):c.2736C>T (p.Asp912=) rs13879
NM_001848.2(COL6A1):c.2742C>T (p.Thr914=) rs115163637
NM_001848.2(COL6A1):c.2781C>T (p.Tyr927=) rs61735853
NM_001848.2(COL6A1):c.2793G>A (p.Ser931=) rs148561616
NM_001848.2(COL6A1):c.2796C>T (p.Ser932=) rs1053320
NM_001848.2(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120
NM_001848.2(COL6A1):c.2821C>T (p.Leu941Phe) rs147882179
NM_001848.2(COL6A1):c.2857G>A (p.Ala953Thr) rs150378645
NM_001848.2(COL6A1):c.2865C>T (p.Ile955=) rs138062080
NM_001848.2(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094
NM_001848.2(COL6A1):c.2875G>A (p.Val959Met) rs200959957
NM_001848.2(COL6A1):c.2958G>C (p.Leu986=) rs886057157
NM_001848.2(COL6A1):c.3029A>G (p.Gln1010Arg) rs141605607
NM_001848.2(COL6A1):c.324C>T (p.Gly108=) rs138646508
NM_001848.2(COL6A1):c.347G>A (p.Ser116Asn) rs11553519
NM_001848.2(COL6A1):c.349G>A (p.Val117Met) rs150686304
NM_001848.2(COL6A1):c.350T>C (p.Val117Ala) rs138899581
NM_001848.2(COL6A1):c.428+14A>G rs3746993
NM_001848.2(COL6A1):c.579C>T (p.Pro193=) rs61751027
NM_001848.2(COL6A1):c.588+13C>A rs754507
NM_001848.2(COL6A1):c.588+19dupC rs111710378
NM_001848.2(COL6A1):c.588+8C>G rs398123638
NM_001848.2(COL6A1):c.645G>A (p.Ala215=) rs115292913
NM_001848.2(COL6A1):c.739-9C>T rs886057149
NM_001848.2(COL6A1):c.751G>A (p.Glu251Lys) rs145849970
NM_001848.2(COL6A1):c.764dupC (p.Arg256Lysfs) rs886057150
NM_001848.2(COL6A1):c.794C>T (p.Pro265Leu) rs757230924
NM_001848.2(COL6A1):c.903+14C>A rs34495634
NM_001848.2(COL6A1):c.930+13C>T rs370271954
NM_001848.2(COL6A1):c.931-5C>T rs371841573
NM_001848.2(COL6A1):c.958-10C>T rs200508160
NM_001848.2(COL6A1):c.981C>T (p.Ile327=) rs138401567
NM_001848.2(COL6A1):c.985G>A (p.Gly329Arg) rs200835287
NM_001848.2(COL6A1):c.997G>A (p.Val333Met) rs201525908

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