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: 38
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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.*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.*754C>T rs886057163
NM_001848.2(COL6A1):c.*814C>T rs886057164
NM_001848.2(COL6A1):c.*851T>C rs886057165
NM_001848.2(COL6A1):c.*985C>T rs778917156
NM_001848.2(COL6A1):c.-76G>A rs886057148
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.1553C>A (p.Thr518Asn) rs201935658
NM_001848.2(COL6A1):c.1555G>A (p.Glu519Lys) rs754384963
NM_001848.2(COL6A1):c.1611C>T (p.Asn537=) rs200023632
NM_001848.2(COL6A1):c.1612-15C>G rs886057154
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.1770G>A (p.Gly590=) rs752980359
NM_001848.2(COL6A1):c.1890C>T (p.Asn630=) rs886057156
NM_001848.2(COL6A1):c.1980G>A (p.Ala660=) rs370780432
NM_001848.2(COL6A1):c.2019C>G (p.His673Gln) rs141424786
NM_001848.2(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954
NM_001848.2(COL6A1):c.2156C>T (p.Pro719Leu) rs753759904
NM_001848.2(COL6A1):c.2191C>T (p.Arg731Cys) rs398123635
NM_001848.2(COL6A1):c.2355C>A (p.Gly785=) rs149910296
NM_001848.2(COL6A1):c.261C>T (p.Asn87=) rs770671793
NM_001848.2(COL6A1):c.2821C>T (p.Leu941Phe) rs147882179
NM_001848.2(COL6A1):c.2958G>C (p.Leu986=) rs886057157
NM_001848.2(COL6A1):c.3029A>G (p.Gln1010Arg) rs141605607
NM_001848.2(COL6A1):c.739-9C>T rs886057149
NM_001848.2(COL6A1):c.764dupC (p.Arg256Lysfs) rs886057150
NM_001848.2(COL6A1):c.930+13C>T rs370271954
NM_001848.2(COL6A1):c.931-5C>T rs371841573

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