ClinVar Miner

Variants in gene COL6A3 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 89
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HGVS dbSNP gnomAD frequency
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10608
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10531
NM_004369.4(COL6A3):c.9213C>T (p.His3071=) rs2270671 0.10029
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val) rs11690358 0.07295
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=) rs61729844 0.06907
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=) rs34558385 0.06903
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=) rs11683438 0.06890
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06660
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
NM_004369.4(COL6A3):c.1976G>A (p.Arg659His) rs36092870 0.02734
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=) rs61729843 0.02678
NM_004369.4(COL6A3):c.882C>T (p.Phe294=) rs7561625 0.02665
NM_004369.4(COL6A3):c.1313-17A>G rs7579816 0.02624
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_004369.4(COL6A3):c.5100G>A (p.Arg1700=) rs34340053 0.02105
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127 0.02035
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=) rs35902696 0.01962
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
NM_004369.4(COL6A3):c.3071-16G>A rs73998896 0.01822
NM_004369.4(COL6A3):c.7668+21G>C rs11897148 0.01818
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=) rs35763271 0.01816
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=) rs80193928 0.01815
NM_004369.4(COL6A3):c.6157-16G>A rs112637114 0.01524
NM_004369.4(COL6A3):c.3054C>T (p.Asn1018=) rs34367758 0.01387
NM_004369.4(COL6A3):c.3420G>A (p.Thr1140=) rs35489467 0.01378
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206 0.01334
NM_004369.4(COL6A3):c.1389C>T (p.Ala463=) rs112896869 0.01203
NM_004369.4(COL6A3):c.768C>T (p.Val256=) rs79606264 0.01148
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839 0.01085
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945 0.01061
NM_004369.4(COL6A3):c.4005C>T (p.Gly1335=) rs34503558 0.01014
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_004369.4(COL6A3):c.6408+44A>G rs78398512 0.00900
NM_004369.4(COL6A3):c.6156+4C>T rs111228504 0.00884
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894 0.00603
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_004369.4(COL6A3):c.6105G>A (p.Lys2035=) rs35556524 0.00550
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=) rs35114079 0.00549
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
NM_004369.4(COL6A3):c.8010G>A (p.Ala2670=) rs79313758 0.00483
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697 0.00482
NM_004369.4(COL6A3):c.6592-27del rs60436236 0.00457
NM_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885 0.00438
NM_004369.4(COL6A3):c.1182C>T (p.Thr394=) rs114750216 0.00432
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val) rs113716915 0.00396
NM_004369.4(COL6A3):c.4285+17G>A rs3791000 0.00392
NM_004369.4(COL6A3):c.4683G>A (p.Gln1561=) rs113074898 0.00392
NM_004369.4(COL6A3):c.8572G>A (p.Val2858Ile) rs111859552 0.00388
NM_004369.4(COL6A3):c.3087C>T (p.Asp1029=) rs113066678 0.00353
NM_004369.4(COL6A3):c.8346G>A (p.Glu2782=) rs35911211 0.00339
NM_004369.4(COL6A3):c.7162+48G>A rs112563876 0.00316
NM_004369.4(COL6A3):c.6754-37G>C rs113304682 0.00312
NM_004369.4(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391 0.00306
NM_004369.4(COL6A3):c.5820C>T (p.Ser1940=) rs113542401 0.00272
NM_004369.4(COL6A3):c.2463T>C (p.Ser821=) rs115387170 0.00267
NM_004369.4(COL6A3):c.730A>G (p.Ile244Val) rs116729313 0.00265
NM_004369.4(COL6A3):c.8458G>A (p.Val2820Ile) rs115171119 0.00260
NM_004369.4(COL6A3):c.3446G>A (p.Arg1149Gln) rs36062562 0.00234
NM_004369.4(COL6A3):c.7400C>T (p.Ser2467Leu) rs111803773 0.00225
NM_004369.4(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555 0.00124
NM_004369.4(COL6A3):c.4090G>A (p.Val1364Met) rs35524572 0.00122
NM_004369.4(COL6A3):c.7007C>T (p.Pro2336Leu) rs202092407 0.00096
NM_004369.4(COL6A3):c.4169C>T (p.Ser1390Leu) rs115548605 0.00095
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193 0.00075
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) rs141609058 0.00074
NM_004369.4(COL6A3):c.1248G>A (p.Leu416=) rs150219857 0.00039
NM_004369.4(COL6A3):c.9017A>G (p.Lys3006Arg) rs2270668 0.00039
NM_004369.4(COL6A3):c.5609G>A (p.Ser1870Asn) rs114804083 0.00037
NM_004369.4(COL6A3):c.3088G>A (p.Val1030Met) rs116238578 0.00034
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958 0.00031
NM_004369.4(COL6A3):c.1478T>C (p.Val493Ala) rs116794756 0.00030
NM_004369.4(COL6A3):c.6618C>T (p.Pro2206=) rs201814201 0.00029
NM_004369.4(COL6A3):c.7359G>A (p.Glu2453=) rs114199044 0.00027
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile) rs144051775 0.00017
NM_004369.4(COL6A3):c.1264G>A (p.Val422Met) rs114511558 0.00015
NM_004369.4(COL6A3):c.6064-6C>T rs202091342 0.00013
NM_004369.4(COL6A3):c.3205G>A (p.Val1069Met) rs115297652 0.00011
NM_004369.4(COL6A3):c.5968C>T (p.Arg1990Trp) rs146546544 0.00010
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=) rs138426138 0.00009
NM_004369.4(COL6A3):c.6053C>T (p.Ala2018Val) rs200239695 0.00009
NM_004369.4(COL6A3):c.34G>A (p.Val12Ile) rs137910388 0.00008
NM_004369.4(COL6A3):c.1228G>A (p.Asp410Asn) rs35914491
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.4(COL6A3):c.7163-44G>A rs113448987

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