ClinVar Miner

List of variants in gene COL6A1 reported as likely benign for not specified

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Gene type:
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Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32659
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=) rs61735853 0.02858
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_001848.3(COL6A1):c.1957-5C>T rs78224483 0.01793
NM_001848.3(COL6A1):c.1443G>A (p.Glu481=) rs80244281 0.01378
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_001848.3(COL6A1):c.2061C>A (p.Leu687=) rs8132678 0.01197
NM_001848.3(COL6A1):c.859-20C>T rs78884675 0.01182
NM_001848.3(COL6A1):c.958-17G>A rs79364611 0.01165
NM_001848.3(COL6A1):c.645G>A (p.Ala215=) rs115292913 0.01120
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518 0.01008
NM_001848.3(COL6A1):c.1740+50C>T rs148205490 0.00926
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His) rs140547835 0.00922
NM_001848.3(COL6A1):c.805-36G>A rs202231424 0.00830
NM_001848.3(COL6A1):c.3054C>T (p.His1018=) rs141237809 0.00680
NM_001848.3(COL6A1):c.588+37A>G rs117470181 0.00672
NM_001848.3(COL6A1):c.429-30C>T rs190029634 0.00621
NM_001848.3(COL6A1):c.739-18C>T rs144843800 0.00561
NM_001848.3(COL6A1):c.1119+39C>T rs74982956 0.00527
NM_001848.3(COL6A1):c.579C>T (p.Pro193=) rs61751027 0.00488
NM_001848.3(COL6A1):c.930+30T>C rs148909683 0.00416
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=) rs115163637 0.00349
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00310
NM_001848.3(COL6A1):c.2067-10T>C rs200727020 0.00299
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=) rs147219060 0.00252
NM_001848.3(COL6A1):c.1336-15C>T rs201003020 0.00174
NM_001848.3(COL6A1):c.1833C>T (p.Cys611=) rs142554239 0.00167
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207 0.00154
NM_001848.3(COL6A1):c.588+8C>G rs398123638 0.00144
NM_001848.3(COL6A1):c.105C>G (p.Pro35=) rs145579577 0.00143
NM_001848.3(COL6A1):c.1644C>T (p.Asp548=) rs182425338 0.00140
NM_001848.3(COL6A1):c.1776C>T (p.Asp592=) rs148439285 0.00135
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=) rs138976133 0.00134
NM_001848.3(COL6A1):c.2049C>T (p.Asn683=) rs143695871 0.00132
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=) rs138062080 0.00131
NM_001848.3(COL6A1):c.2866G>A (p.Glu956Lys) rs149534094 0.00128
NM_001848.3(COL6A1):c.2469G>A (p.Thr823=) rs146662894 0.00112
NM_001848.3(COL6A1):c.2758C>T (p.Leu920=) rs141620374 0.00110
NM_001848.3(COL6A1):c.1336-17G>A rs185337381 0.00103
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met) rs150432347 0.00081
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=) rs139243418 0.00076
NM_001848.3(COL6A1):c.981C>T (p.Ile327=) rs138401567 0.00068
NM_001848.3(COL6A1):c.993C>T (p.Asp331=) rs373948031 0.00057
NM_001848.3(COL6A1):c.997G>A (p.Val333Met) rs201525908 0.00052
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala) rs144814689 0.00050
NM_001848.3(COL6A1):c.2464+11C>T rs202074876 0.00038
NM_001848.3(COL6A1):c.349G>A (p.Val117Met) rs150686304 0.00038
NM_001848.3(COL6A1):c.2187C>T (p.Asp729=) rs369502543 0.00034
NM_001848.3(COL6A1):c.1675-16C>T rs200659458 0.00033
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg) rs141605607 0.00026
NM_001848.3(COL6A1):c.1776+13C>T rs201734661 0.00025
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954 0.00024
NM_001848.3(COL6A1):c.1611C>T (p.Asn537=) rs200023632 0.00019
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile) rs372750707 0.00017
NM_001848.3(COL6A1):c.1398+10G>A rs143438559 0.00016
NM_001848.3(COL6A1):c.1475C>T (p.Ala492Val) rs117340427 0.00016
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=) rs369802454 0.00014
NM_001848.3(COL6A1):c.3078G>A (p.Ala1026=) rs190043330 0.00014
NM_001848.3(COL6A1):c.348C>T (p.Ser116=) rs189444981 0.00014
NM_001848.3(COL6A1):c.1462-19G>A rs191393017 0.00011
NM_001848.3(COL6A1):c.2418C>T (p.Thr806=) rs760768642 0.00011
NM_001848.3(COL6A1):c.2622G>A (p.Ala874=) rs371763977 0.00011
NM_001848.3(COL6A1):c.2994C>T (p.Tyr998=) rs148405880 0.00010
NM_001848.3(COL6A1):c.227+15C>T rs199730779 0.00009
NM_001848.3(COL6A1):c.2464+9C>T rs368651226 0.00008
NM_001848.3(COL6A1):c.1462-8C>T rs199849694 0.00006
NM_001848.3(COL6A1):c.1611+20C>T rs369940697 0.00006
NM_001848.3(COL6A1):c.2348G>A (p.Arg783Gln) rs200261890 0.00006
NM_001848.3(COL6A1):c.2709C>T (p.Ala903=) rs139018148 0.00005
NM_001848.3(COL6A1):c.1119+13C>T rs199655304 0.00004
NM_001848.3(COL6A1):c.1336-12G>A rs746917431 0.00004
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993 0.00004
NM_001848.3(COL6A1):c.1957-17C>T rs370007363 0.00004
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=) rs760649238 0.00004
NM_001848.3(COL6A1):c.510G>A (p.Gly170=) rs373970248 0.00004
NM_001848.3(COL6A1):c.588+9C>T rs776935888 0.00004
NM_001848.3(COL6A1):c.1272+11C>T rs371785147 0.00003
NM_001848.3(COL6A1):c.1671C>T (p.Asp557=) rs770099663 0.00003
NM_001848.3(COL6A1):c.2480C>T (p.Pro827Leu) rs761774962 0.00003
NM_001848.3(COL6A1):c.2512G>A (p.Ala838Thr) rs529770550 0.00003
NM_001848.3(COL6A1):c.423C>T (p.Leu141=) rs373486149 0.00003
NM_001848.3(COL6A1):c.1611+9G>A rs186975997 0.00002
NM_001848.3(COL6A1):c.1941G>A (p.Arg647=) rs139914666 0.00002
NM_001848.3(COL6A1):c.859-18T>A rs398123641 0.00002
NM_001848.3(COL6A1):c.931-4G>A rs758332867 0.00002
NM_001848.3(COL6A1):c.1236+14C>T rs372483312 0.00001
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=) rs745847824 0.00001
NM_001848.3(COL6A1):c.2298A>G (p.Ser766=) rs761665024 0.00001
NM_001848.3(COL6A1):c.2464+18C>T rs754626987 0.00001
NM_001848.3(COL6A1):c.2670G>A (p.Ser890=) rs527265374 0.00001
NM_001848.3(COL6A1):c.717+33G>A rs373394656 0.00001
NM_001848.3(COL6A1):c.930+14G>A rs766551754 0.00001
NM_001848.3(COL6A1):c.-8C>A rs886038491
NM_001848.3(COL6A1):c.1003-15del rs769487412
NM_001848.3(COL6A1):c.1119+19del rs750949530
NM_001848.3(COL6A1):c.1120-12G>A rs115107397
NM_001848.3(COL6A1):c.1186C>G (p.Gln396Glu) rs886038493
NM_001848.3(COL6A1):c.1506G>C (p.Pro502=) rs139987124
NM_001848.3(COL6A1):c.1524+19G>A rs2276256
NM_001848.3(COL6A1):c.1611+48C>T rs886038494
NM_001848.3(COL6A1):c.1674+15G>A rs749423625
NM_001848.3(COL6A1):c.1814-6C>G rs182804464
NM_001848.3(COL6A1):c.1887G>A (p.Gln629=) rs1447613750
NM_001848.3(COL6A1):c.2066+15C>A rs201407082
NM_001848.3(COL6A1):c.2220G>T (p.Pro740=) rs138976133
NM_001848.3(COL6A1):c.2250+19G>C rs1057521436
NM_001848.3(COL6A1):c.2434+15_2434+54del rs1064795349
NM_001848.3(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.3(COL6A1):c.2874C>T (p.Ala958=) rs769441014
NM_001848.3(COL6A1):c.423C>A (p.Leu141=) rs373486149
NM_001848.3(COL6A1):c.428+39C>G rs148766287
NM_001848.3(COL6A1):c.760-11C>T rs1556425140
NM_001848.3(COL6A1):c.930+20G>C rs765683206

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