ClinVar Miner

List of variants in gene COL6A3 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Total variants: 39
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HGVS dbSNP
NM_004369.3(COL6A3):c.*754T>A rs886055801
NM_004369.3(COL6A3):c.*90C>T rs886055802
NM_004369.3(COL6A3):c.1538G>A (p.Arg513Gln) rs139498556
NM_004369.3(COL6A3):c.1574C>T (p.Thr525Met) rs755178814
NM_004369.3(COL6A3):c.1770T>C (p.Ala590=) rs774234847
NM_004369.3(COL6A3):c.1996G>A (p.Val666Ile) rs111584250
NM_004369.3(COL6A3):c.2027T>G (p.Ile676Ser) rs771749492
NM_004369.3(COL6A3):c.2189A>G (p.His730Arg) rs760976593
NM_004369.3(COL6A3):c.2253A>G (p.Thr751=) rs886055809
NM_004369.3(COL6A3):c.3235G>A (p.Glu1079Lys) rs762778512
NM_004369.3(COL6A3):c.3795C>A (p.Gly1265=) rs886055808
NM_004369.3(COL6A3):c.3852C>A (p.Phe1284Leu) rs148561729
NM_004369.3(COL6A3):c.3862G>A (p.Ala1288Thr) rs761799119
NM_004369.3(COL6A3):c.3901C>T (p.Arg1301Trp) rs150430813
NM_004369.3(COL6A3):c.4108G>T (p.Ala1370Ser) rs372234605
NM_004369.3(COL6A3):c.410G>A (p.Arg137Gln) rs779126378
NM_004369.3(COL6A3):c.461C>T (p.Ser154Leu) rs147701785
NM_004369.3(COL6A3):c.4935T>C (p.Asp1645=) rs767560639
NM_004369.3(COL6A3):c.5635G>A (p.Gly1879Ser) rs760603443
NM_004369.3(COL6A3):c.5646G>T (p.Ser1882=) rs886055807
NM_004369.3(COL6A3):c.5655G>C (p.Val1885=) rs756468711
NM_004369.3(COL6A3):c.5833G>C (p.Val1945Leu) rs113332380
NM_004369.3(COL6A3):c.6174C>T (p.Asp2058=) rs777351827
NM_004369.3(COL6A3):c.6211-23_6211-14delAATGCCTTTGinsTTTTGC rs886055806
NM_004369.3(COL6A3):c.6878C>T (p.Thr2293Met) rs759657526
NM_004369.3(COL6A3):c.6879+15C>T rs368631950
NM_004369.3(COL6A3):c.7163-2A>G rs1559207854
NM_004369.3(COL6A3):c.7175-11A>G rs373913396
NM_004369.3(COL6A3):c.7308G>A (p.Glu2436=) rs750552221
NM_004369.3(COL6A3):c.7401G>A (p.Ser2467=) rs377572272
NM_004369.3(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335
NM_004369.3(COL6A3):c.759C>T (p.Thr253=) rs376087730
NM_004369.3(COL6A3):c.7607C>T (p.Ala2536Val) rs769072338
NM_004369.3(COL6A3):c.7649A>C (p.Gln2550Pro) rs886055805
NM_004369.3(COL6A3):c.7691A>T (p.His2564Leu) rs886055804
NM_004369.3(COL6A3):c.786C>T (p.Leu262=) rs111481402
NM_004369.3(COL6A3):c.8050A>C (p.Lys2684Gln) rs886055803
NM_004369.3(COL6A3):c.8189C>T (p.Ala2730Val) rs138466455
NM_004369.3(COL6A3):c.8632A>G (p.Thr2878Ala) rs761653490

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