ClinVar Miner

List of variants in gene COL6A3 reported as likely benign by PreventionGenetics

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Gene type:
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Total variants: 55
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HGVS dbSNP
NM_004369.3(COL6A3):c.1056C>T (p.Leu352=) rs78365682
NM_004369.3(COL6A3):c.1182C>T (p.Thr394=) rs114750216
NM_004369.3(COL6A3):c.1313-17A>G rs7579816
NM_004369.3(COL6A3):c.1613C>T (p.Thr538Met) rs34741387
NM_004369.3(COL6A3):c.1761C>T (p.Ala587=) rs34978064
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.2292C>T (p.Asn764=) rs116066149
NM_004369.3(COL6A3):c.2674G>A (p.Glu892Lys) rs760380736
NM_004369.3(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669
NM_004369.3(COL6A3):c.3054C>T (p.Asn1018=) rs34367758
NM_004369.3(COL6A3):c.3071-16G>A rs73998896
NM_004369.3(COL6A3):c.3087C>T (p.Asp1029=) rs113066678
NM_004369.3(COL6A3):c.3191G>A (p.Arg1064Gln) rs112638391
NM_004369.3(COL6A3):c.3270C>T (p.Asp1090=) rs113781746
NM_004369.3(COL6A3):c.3324C>T (p.Thr1108=) rs116239777
NM_004369.3(COL6A3):c.3420G>A (p.Thr1140=) rs35489467
NM_004369.3(COL6A3):c.3954C>T (p.Tyr1318=) rs375909800
NM_004369.3(COL6A3):c.4005C>T (p.Gly1335=) rs34503558
NM_004369.3(COL6A3):c.4011G>A (p.Pro1337=) rs114498197
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.4183C>T (p.Arg1395Trp) rs73998894
NM_004369.3(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723
NM_004369.3(COL6A3):c.4217C>T (p.Thr1406Met) rs114061998
NM_004369.3(COL6A3):c.4285+17G>A rs3791000
NM_004369.3(COL6A3):c.4285+9G>A rs75780727
NM_004369.3(COL6A3):c.4503C>T (p.Asp1501=) rs115551245
NM_004369.3(COL6A3):c.4849G>A (p.Ala1617Thr) rs200433282
NM_004369.3(COL6A3):c.489G>A (p.Ala163=) rs148970984
NM_004369.3(COL6A3):c.5139G>A (p.Gly1713=) rs114338020
NM_004369.3(COL6A3):c.5241C>T (p.Ala1747=) rs746564243
NM_004369.3(COL6A3):c.5619C>T (p.His1873=) rs146355600
NM_004369.3(COL6A3):c.576G>T (p.Pro192=) rs141560881
NM_004369.3(COL6A3):c.5820C>T (p.Ser1940=) rs113542401
NM_004369.3(COL6A3):c.5838+7G>C rs369931091
NM_004369.3(COL6A3):c.5917+27A>G rs78387780
NM_004369.3(COL6A3):c.6064-6C>T rs202091342
NM_004369.3(COL6A3):c.6156+16C>G rs779455691
NM_004369.3(COL6A3):c.6408+44A>G rs78398512
NM_004369.3(COL6A3):c.6538-13T>C rs754557027
NM_004369.3(COL6A3):c.6690+39T>C rs58342729
NM_004369.3(COL6A3):c.6751C>T (p.Arg2251Trp) rs116690555
NM_004369.3(COL6A3):c.6754-9C>G rs886038542
NM_004369.3(COL6A3):c.6879+33C>T rs78071799
NM_004369.3(COL6A3):c.7007C>T (p.Pro2336Leu) rs202092407
NM_004369.3(COL6A3):c.7668+21G>C rs11897148
NM_004369.3(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697
NM_004369.3(COL6A3):c.8346G>A (p.Glu2782=) rs35911211
NM_004369.3(COL6A3):c.8465-7dupT rs111494366
NM_004369.3(COL6A3):c.8568-19A>G rs886038543
NM_004369.3(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206
NM_004369.3(COL6A3):c.91+11G>C rs372744024
NM_004369.3(COL6A3):c.9329-33C>T rs398124137
NM_004369.3(COL6A3):c.9411T>C (p.Cys3137=) rs112290343

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