ClinVar Miner

List of variants in gene COL6A1 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
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Total variants: 62
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HGVS dbSNP
NM_001848.2(COL6A1):c.*13G>A rs376729246
NM_001848.2(COL6A1):c.*182A>G rs886057159
NM_001848.2(COL6A1):c.*343G>A rs554489309
NM_001848.2(COL6A1):c.*367C>A rs546403892
NM_001848.2(COL6A1):c.*526C>T rs866939049
NM_001848.2(COL6A1):c.*558_*560delCTC rs886057160
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.*754C>T rs886057163
NM_001848.2(COL6A1):c.*785C>T rs557900713
NM_001848.2(COL6A1):c.*814C>T rs886057164
NM_001848.2(COL6A1):c.*851T>C rs886057165
NM_001848.2(COL6A1):c.*940C>T rs545323453
NM_001848.2(COL6A1):c.*985C>T rs778917156
NM_001848.2(COL6A1):c.-76G>A rs886057148
NM_001848.2(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158
NM_001848.2(COL6A1):c.1119+13C>T rs199655304
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.1277G>A (p.Gly426Asp) rs886057152
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.1477C>A (p.Pro493Thr) rs760275915
NM_001848.2(COL6A1):c.1612-15C>G rs886057154
NM_001848.2(COL6A1):c.1665C>T (p.Pro555=) rs369802454
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.1710A>C (p.Ala570=) rs763515261
NM_001848.2(COL6A1):c.1770G>A (p.Gly590=) rs752980359
NM_001848.2(COL6A1):c.1890C>T (p.Asn630=) rs886057156
NM_001848.2(COL6A1):c.2958G>C (p.Leu986=) rs886057157
NM_001848.2(COL6A1):c.539A>G (p.Lys180Arg) rs756141940
NM_001848.2(COL6A1):c.549C>T (p.Gly183=) rs398123636
NM_001848.2(COL6A1):c.623C>T (p.Thr208Met) rs372199631
NM_001848.2(COL6A1):c.739-9C>T rs886057149
NM_001848.2(COL6A1):c.764dup (p.Arg256fs) rs886057150
NM_001848.3(COL6A1):c.*138G>A
NM_001848.3(COL6A1):c.*146G>A
NM_001848.3(COL6A1):c.*171C>T
NM_001848.3(COL6A1):c.*236G>A
NM_001848.3(COL6A1):c.*343G>C
NM_001848.3(COL6A1):c.*369C>T
NM_001848.3(COL6A1):c.*447T>C
NM_001848.3(COL6A1):c.*675G>A
NM_001848.3(COL6A1):c.*78G>A
NM_001848.3(COL6A1):c.1002+6T>C
NM_001848.3(COL6A1):c.1777-9C>T
NM_001848.3(COL6A1):c.1785G>A (p.Glu595=)
NM_001848.3(COL6A1):c.1822+11G>A
NM_001848.3(COL6A1):c.2030G>A (p.Arg677His)
NM_001848.3(COL6A1):c.227+11C>T
NM_001848.3(COL6A1):c.228-7C>T
NM_001848.3(COL6A1):c.2465-13C>T
NM_001848.3(COL6A1):c.2524A>G (p.Ser842Gly)
NM_001848.3(COL6A1):c.2798G>A (p.Gly933Asp)
NM_001848.3(COL6A1):c.583C>G (p.His195Asp)
NM_001848.3(COL6A1):c.594G>A (p.Pro198=) rs376592866
NM_001848.3(COL6A1):c.759+13C>T
NM_001848.3(COL6A1):c.826C>T (p.Leu276Phe)
NM_001848.3(COL6A1):c.884T>A (p.Val295Asp)

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