ClinVar Miner

List of variants in gene COL6A1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.739-18C>T rs144843800 0.00561
NM_001848.3(COL6A1):c.1056C>T (p.Asp352=) rs116343553 0.00426
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=) rs35134265 0.00313
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00310
NM_001848.3(COL6A1):c.1612-6C>T rs143812383 0.00296
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=) rs147219060 0.00252
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln) rs151158105 0.00200
NM_001848.3(COL6A1):c.2250+6G>C rs202212586 0.00195
NM_001848.3(COL6A1):c.324C>T (p.Gly108=) rs138646508 0.00194
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207 0.00154
NM_001848.3(COL6A1):c.105C>G (p.Pro35=) rs145579577 0.00143
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.2866G>A (p.Glu956Lys) rs149534094 0.00128
NM_001848.3(COL6A1):c.2469G>A (p.Thr823=) rs146662894 0.00112
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) rs143502850 0.00093
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met) rs150432347 0.00081
NM_001848.3(COL6A1):c.996C>T (p.Gly332=) rs11702055 0.00080
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.1043C>T (p.Ser348Leu) rs142882745 0.00065
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120 0.00061
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys) rs137964147 0.00057
NM_001848.3(COL6A1):c.349G>A (p.Val117Met) rs150686304 0.00038
NM_001848.3(COL6A1):c.666C>T (p.Arg222=) rs372581026 0.00032
NM_001848.3(COL6A1):c.531C>T (p.Asn177=) rs767176038 0.00031
NM_001848.3(COL6A1):c.3029A>G (p.Gln1010Arg) rs141605607 0.00026
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.1665C>T (p.Pro555=) rs369802454 0.00014
NM_001848.3(COL6A1):c.348C>T (p.Ser116=) rs189444981 0.00014
NM_001848.3(COL6A1):c.2820G>A (p.Leu940=) rs111451684 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.931-5C>T rs371841573 0.00010
NM_001848.3(COL6A1):c.2568C>T (p.Ala856=) rs771446601 0.00009
NM_001848.3(COL6A1):c.751G>A (p.Glu251Lys) rs145849970 0.00007
NM_001848.3(COL6A1):c.357G>A (p.Ala119=) rs747037863 0.00006
NM_001848.3(COL6A1):c.1179C>T (p.Asp393=) rs182068143 0.00005
NM_001848.3(COL6A1):c.1313C>T (p.Thr438Met) rs376807461 0.00004
NM_001848.3(COL6A1):c.423C>T (p.Leu141=) rs373486149 0.00003
NM_001848.3(COL6A1):c.2419G>A (p.Ala807Thr) rs143925936 0.00002
NM_001848.3(COL6A1):c.2712C>T (p.Val904=) rs780582491 0.00002
NM_001848.3(COL6A1):c.717C>T (p.Ile239=) rs775349013 0.00002
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=) rs745847824 0.00001
NM_001848.3(COL6A1):c.1893C>T (p.Phe631=) rs374031718 0.00001
NM_001848.3(COL6A1):c.1898T>C (p.Ile633Thr) rs1237092252 0.00001
NM_001848.3(COL6A1):c.2506G>C (p.Gly836Arg) rs1315626031 0.00001
NM_001848.3(COL6A1):c.2518G>A (p.Val840Met) rs751124572 0.00001
NM_001848.3(COL6A1):c.2643G>A (p.Thr881=) rs372725624 0.00001
NM_001848.3(COL6A1):c.1003-1G>A rs886043330
NM_001848.3(COL6A1):c.1021G>C (p.Gly341Arg) rs886043321
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp) rs121912935
NM_001848.3(COL6A1):c.117_119del (p.Phe40del)
NM_001848.3(COL6A1):c.1270C>T (p.Arg424Trp) rs1034465336
NM_001848.3(COL6A1):c.1398G>A (p.Pro466=) rs886042955
NM_001848.3(COL6A1):c.1823-13C>T rs571173076
NM_001848.3(COL6A1):c.1926C>T (p.Ile642=)
NM_001848.3(COL6A1):c.1959C>T (p.Phe653=) rs112104768
NM_001848.3(COL6A1):c.1989G>A (p.Val663=) rs760624194
NM_001848.3(COL6A1):c.2022G>A (p.Val674=) rs764099825
NM_001848.3(COL6A1):c.228-7C>T rs2077724467
NM_001848.3(COL6A1):c.2460C>T (p.Cys820=) rs2077858751
NM_001848.3(COL6A1):c.2751C>G (p.Asn917Lys)
NM_001848.3(COL6A1):c.2807AGA[1] (p.Lys937del) rs886043457
NM_001848.3(COL6A1):c.2873C>A (p.Ala958Asp) rs763228065
NM_001848.3(COL6A1):c.2874C>T (p.Ala958=) rs769441014
NM_001848.3(COL6A1):c.344G>A (p.Ser115Asn) rs372627181
NM_001848.3(COL6A1):c.428+5G>A rs1603589628
NM_001848.3(COL6A1):c.738G>A (p.Val246=) rs1064797287
NM_001848.3(COL6A1):c.806G>A (p.Gly269Glu) rs2077759104
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu) rs1603590637
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg) rs398123643
NM_001848.3(COL6A1):c.887G>A (p.Gly296Glu) rs1603590649
NM_001848.3(COL6A1):c.904-2A>G rs1057519174

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