ClinVar Miner

List of variants in gene COL11A2 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 48
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HGVS dbSNP
NM_080679.2(COL11A2):c.1049G>A (p.Gly350Asp) rs1554221493
NM_080679.2(COL11A2):c.1059G>A (p.Gly353=) rs373168555
NM_080679.2(COL11A2):c.1061G>A (p.Gly354Asp) rs141140798
NM_080679.2(COL11A2):c.1074T>G (p.Pro358=) rs1554221471
NM_080679.2(COL11A2):c.1130C>T (p.Ala377Val) rs143965711
NM_080679.2(COL11A2):c.1294C>T (p.Arg432Trp) rs145499142
NM_080679.2(COL11A2):c.12C>T (p.Cys4=) rs914781832
NM_080679.2(COL11A2):c.1316G>A (p.Arg439Gln) rs199866657
NM_080679.2(COL11A2):c.136G>A (p.Gly46Ser) rs886044564
NM_080679.2(COL11A2):c.1399-4G>T rs369678506
NM_080679.2(COL11A2):c.1696-5T>G rs200523422
NM_080679.2(COL11A2):c.1778G>C (p.Gly593Ala) rs558103710
NM_080679.2(COL11A2):c.1848+5C>T rs794727446
NM_080679.2(COL11A2):c.1979A>G (p.Glu660Gly) rs775641112
NM_080679.2(COL11A2):c.2215C>T (p.Arg739Trp) rs149071920
NM_080679.2(COL11A2):c.2263-10C>T rs886043444
NM_080679.2(COL11A2):c.2316T>C (p.Pro772=)
NM_080679.2(COL11A2):c.233-8G>T rs375268140
NM_080679.2(COL11A2):c.2476G>A (p.Ala826Thr) rs886043811
NM_080679.2(COL11A2):c.2520C>T (p.Pro840=) rs565891154
NM_080679.2(COL11A2):c.2611G>A (p.Asp871Asn) rs772537556
NM_080679.2(COL11A2):c.2771C>T (p.Pro924Leu) rs528009333
NM_080679.2(COL11A2):c.2861G>A (p.Arg954Gln) rs528982644
NM_080679.2(COL11A2):c.3004C>T (p.Pro1002Ser) rs761687232
NM_080679.2(COL11A2):c.3031C>A (p.Gln1011Lys) rs369849667
NM_080679.2(COL11A2):c.3295C>T (p.Leu1099=) rs147576338
NM_080679.2(COL11A2):c.3678_3679delinsGC (p.Gly1227Arg) rs797044765
NM_080679.2(COL11A2):c.3679G>C (p.Gly1227Arg) rs200574827
NM_080679.2(COL11A2):c.3828A>G (p.Thr1276=) rs746019545
NM_080679.2(COL11A2):c.3970C>T (p.Arg1324Trp) rs369126897
NM_080679.2(COL11A2):c.4048C>T (p.Pro1350Ser) rs1562310536
NM_080679.2(COL11A2):c.4161G>A (p.Pro1387=) rs142586242
NM_080679.2(COL11A2):c.4331G>A (p.Arg1444Gln) rs145343609
NM_080679.2(COL11A2):c.4354C>T (p.Arg1452Trp) rs370966667
NM_080679.2(COL11A2):c.4355G>A (p.Arg1452Gln) rs774845879
NM_080679.2(COL11A2):c.4446C>T (p.Asp1482=) rs886044178
NM_080679.2(COL11A2):c.4533C>G (p.Asp1511Glu) rs151319255
NM_080679.2(COL11A2):c.4542+7G>A rs200947059
NM_080679.2(COL11A2):c.4638C>T (p.Tyr1546=) rs140017436
NM_080679.2(COL11A2):c.4785G>A (p.Thr1595=) rs752823488
NM_080679.2(COL11A2):c.480T>G (p.Ser160=) rs142969513
NM_080679.2(COL11A2):c.539G>A (p.Arg180His) rs142462583
NM_080679.2(COL11A2):c.706C>T (p.Pro236Ser) rs35116188
NM_080679.2(COL11A2):c.798+1585G>A rs139116571
NM_080679.2(COL11A2):c.798+894G>A rs146432857
NM_080679.2(COL11A2):c.840G>T (p.Glu280Asp)
NM_080679.2(COL11A2):c.859-4A>G rs1554221961
NM_080679.2(COL11A2):c.977G>A (p.Arg326Gln) rs762813373

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