ClinVar Miner

List of variants in gene COL11A2 reported by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP
NM_001163771.1(COL11A2):c.688G>T (p.Gly230Trp) rs141430703
NM_080680.2(COL11A2):c.*119G>A rs183458493
NM_080680.2(COL11A2):c.*128C>G rs528560777
NM_080680.2(COL11A2):c.*248C>A rs886061314
NM_080680.2(COL11A2):c.*439C>A rs886061313
NM_080680.2(COL11A2):c.*4C>T rs186720023
NM_080680.2(COL11A2):c.*536C>T rs886061312
NM_080680.2(COL11A2):c.*544C>G rs199956729
NM_080680.2(COL11A2):c.*706G>T rs548143581
NM_080680.2(COL11A2):c.*822C>G rs536130072
NM_080680.2(COL11A2):c.*925G>A rs117470046
NM_080680.2(COL11A2):c.-174C>A rs138299820
NM_080680.2(COL11A2):c.-200G>A rs144092339
NM_080680.2(COL11A2):c.-226C>T rs886061320
NM_080680.2(COL11A2):c.-241G>A rs533843327
NM_080680.2(COL11A2):c.-92A>G rs886061319
NM_080680.2(COL11A2):c.1098G>A (p.Ala366=) rs73741539
NM_080680.2(COL11A2):c.1178C>T (p.Pro393Leu) rs140266192
NM_080680.2(COL11A2):c.1179+10G>A rs2744507
NM_080680.2(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101
NM_080680.2(COL11A2):c.1287C>T (p.Gly429=) rs549704545
NM_080680.2(COL11A2):c.1360-7A>C rs3129201
NM_080680.2(COL11A2):c.1381G>T (p.Gly461Cys) rs764998691
NM_080680.2(COL11A2):c.1612-10G>C rs182657680
NM_080680.2(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142
NM_080680.2(COL11A2):c.1666-5_1666-3delCCT rs147815324
NM_080680.2(COL11A2):c.1774-9C>T rs148243956
NM_080680.2(COL11A2):c.1782C>T (p.Asp594=) rs41266697
NM_080680.2(COL11A2):c.1818+15G>A rs549588854
NM_080680.2(COL11A2):c.1873-14A>G rs149099562
NM_080680.2(COL11A2):c.2054G>C (p.Gly685Ala) rs757431548
NM_080680.2(COL11A2):c.2136A>T (p.Gly712=) rs1799908
NM_080680.2(COL11A2):c.2182A>T (p.Ile728Phe) rs188490457
NM_080680.2(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262
NM_080680.2(COL11A2):c.2215-11A>G rs557236389
NM_080680.2(COL11A2):c.2271C>T (p.Gly757=) rs745568808
NM_080680.2(COL11A2):c.230C>A (p.Pro77Gln) rs35765893
NM_080680.2(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886
NM_080680.2(COL11A2):c.2416C>T (p.Arg806Cys) rs376355040
NM_080680.2(COL11A2):c.2484+13delG rs55730247
NM_080680.2(COL11A2):c.2520G>A (p.Arg840=) rs117237998
NM_080680.2(COL11A2):c.2584-5delC rs555657704
NM_080680.2(COL11A2):c.2628+3G>A rs970901
NM_080680.2(COL11A2):c.2681C>T (p.Pro894Leu) rs2855430
NM_080680.2(COL11A2):c.2684G>C (p.Gly895Ala) rs555936455
NM_080680.2(COL11A2):c.2700T>C (p.Asp900=) rs2229785
NM_080680.2(COL11A2):c.2735T>C (p.Val912Ala) rs548592690
NM_080680.2(COL11A2):c.2757C>T (p.Gly919=) rs34478777
NM_080680.2(COL11A2):c.2848C>T (p.Pro950Ser) rs768902062
NM_080680.2(COL11A2):c.3092C>T (p.Pro1031Leu) rs528009333
NM_080680.2(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.2(COL11A2):c.3150+15A>C rs2855436
NM_080680.2(COL11A2):c.3174G>A (p.Pro1058=) rs1799910
NM_080680.2(COL11A2):c.3267G>A (p.Val1089=) rs781462105
NM_080680.2(COL11A2):c.3313-11C>T rs2855437
NM_080680.2(COL11A2):c.3328C>T (p.Pro1110Ser) rs141164483
NM_080680.2(COL11A2):c.3370G>A (p.Ala1124Thr) rs886061316
NM_080680.2(COL11A2):c.3384C>T (p.Pro1128=) rs1799911
NM_080680.2(COL11A2):c.353G>C (p.Arg118Pro) rs41268014
NM_080680.2(COL11A2):c.3576C>T (p.Gly1192=) rs138380958
NM_080680.2(COL11A2):c.3583-5T>C rs183536190
NM_080680.2(COL11A2):c.3615C>A (p.Asn1205Lys) rs141967872
NM_080680.2(COL11A2):c.3616C>T (p.Leu1206=) rs147576338
NM_080680.2(COL11A2):c.3654A>G (p.Ser1218=) rs146962984
NM_080680.2(COL11A2):c.3699C>T (p.Arg1233=) rs151098305
NM_080680.2(COL11A2):c.3725C>T (p.Ser1242Leu) rs534570825
NM_080680.2(COL11A2):c.3850C>T (p.Arg1284Trp) rs886061315
NM_080680.2(COL11A2):c.3883G>A (p.Glu1295Lys) rs758507327
NM_080680.2(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460
NM_080680.2(COL11A2):c.3946C>A (p.Pro1316Thr) rs2229784
NM_080680.2(COL11A2):c.4041G>A (p.Pro1347=) rs139283268
NM_080680.2(COL11A2):c.4080G>A (p.Gly1360=) rs537455619
NM_080680.2(COL11A2):c.4265C>T (p.Pro1422Leu) rs555936333
NM_080680.2(COL11A2):c.4383C>T (p.Pro1461=) rs148262058
NM_080680.2(COL11A2):c.4392+12C>T rs117267045
NM_080680.2(COL11A2):c.4458T>A (p.Gly1486=) rs143186319
NM_080680.2(COL11A2):c.4521G>A (p.Gln1507=) rs114580597
NM_080680.2(COL11A2):c.453T>C (p.Arg151=) rs147115504
NM_080680.2(COL11A2):c.4586C>T (p.Pro1529Leu) rs201315111
NM_080680.2(COL11A2):c.4651C>T (p.Arg1551Trp) rs141254777
NM_080680.2(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609
NM_080680.2(COL11A2):c.4675C>T (p.Arg1559Trp) rs370966667
NM_080680.2(COL11A2):c.4683A>G (p.Thr1561=) rs34055850
NM_080680.2(COL11A2):c.4751-9A>G rs555680585
NM_080680.2(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912
NM_080680.2(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255
NM_080680.2(COL11A2):c.4872C>T (p.Tyr1624=) rs372250466
NM_080680.2(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790
NM_080680.2(COL11A2):c.4951G>A (p.Val1651Ile) rs766589324
NM_080680.2(COL11A2):c.5000G>A (p.Arg1667His) rs146555195
NM_080680.2(COL11A2):c.5071-5T>G rs368309085
NM_080680.2(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792
NM_080680.2(COL11A2):c.5A>G (p.Glu2Gly) rs568840295
NM_080680.2(COL11A2):c.752A>T (p.Gln251Leu) rs201399429
NM_080680.2(COL11A2):c.826G>A (p.Glu276Lys) rs9277934
NM_080680.2(COL11A2):c.830C>A (p.Pro277His) rs886061318
NM_080680.2(COL11A2):c.877-4T>A rs1799907
NM_080680.2(COL11A2):c.939G>C (p.Glu313Asp) rs886061317
NM_080680.2(COL11A2):c.966dup (p.Thr323Hisfs) rs748440351

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