ClinVar Miner

List of variants in gene COL11A2 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.1360-7A>C rs3129201 0.99999
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=) rs2229785 0.78559
NM_080680.3(COL11A2):c.3313-11C>T rs2855437 0.73560
NM_080680.3(COL11A2):c.2628+3G>A rs970901 0.57903
NM_080680.3(COL11A2):c.877-4T>A rs1799907 0.31476
NM_080680.3(COL11A2):c.2681C>T (p.Pro894Leu) rs2855430 0.09772
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=) rs41266697 0.00686
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998 0.00345
NM_080680.3(COL11A2):c.353G>C (p.Arg118Pro) rs41268014 0.00213
NM_080680.3(COL11A2):c.4041G>A (p.Pro1347=) rs139283268 0.00212
NM_080680.3(COL11A2):c.2115+7T>C rs186051366 0.00185
NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=) rs114580597 0.00182
NM_080680.3(COL11A2):c.329G>A (p.Arg110Gln) rs145960317 0.00168
NM_080680.3(COL11A2):c.390G>C (p.Arg130=) rs149638770 0.00163
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886 0.00153
NM_080680.3(COL11A2):c.1612-10G>C rs182657680 0.00112
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609 0.00077
NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790 0.00055
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305 0.00052
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798 0.00045
NM_080680.3(COL11A2):c.480T>G (p.Ser160=) rs142969513 0.00044
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188 0.00044
NM_080680.3(COL11A2):c.1720-4G>T rs369678506 0.00041
NM_080680.3(COL11A2):c.1819-10G>A rs3129202 0.00024
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp) rs149071920 0.00024
NM_080680.3(COL11A2):c.4950C>T (p.Asp1650=) rs372110441 0.00024
NM_080680.3(COL11A2):c.233-8G>T rs375268140 0.00019
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_080680.3(COL11A2):c.4863+7G>A rs200947059 0.00016
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) rs140017436 0.00014
NM_080680.3(COL11A2):c.4291C>T (p.Arg1431Trp) rs369126897 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_080680.3(COL11A2):c.4149A>G (p.Thr1383=) rs746019545 0.00011
NM_080680.3(COL11A2):c.4000G>C (p.Gly1334Arg) rs200574827 0.00009
NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly) rs775641112 0.00008
NM_080680.3(COL11A2):c.539G>A (p.Arg180His) rs142462583 0.00008
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu) rs528009333 0.00006
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp) rs370966667 0.00005
NM_080680.3(COL11A2):c.12C>T (p.Cys4=) rs914781832 0.00004
NM_080680.3(COL11A2):c.1451C>T (p.Ala484Val) rs143965711 0.00004
NM_080680.3(COL11A2):c.2841C>T (p.Pro947=) rs565891154 0.00004
NM_080680.3(COL11A2):c.2932G>A (p.Asp978Asn) rs772537556 0.00004
NM_080680.3(COL11A2):c.4676G>A (p.Arg1559Gln) rs774845879 0.00004
NM_080680.3(COL11A2):c.3325C>T (p.Pro1109Ser) rs761687232 0.00003
NM_080680.3(COL11A2):c.3352C>A (p.Gln1118Lys) rs369849667 0.00003
NM_080680.3(COL11A2):c.1380G>A (p.Gly460=) rs373168555 0.00002
NM_080680.3(COL11A2):c.2637T>C (p.Pro879=) rs199677738 0.00002
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=) rs752823488 0.00002
NM_080680.3(COL11A2):c.844G>A (p.Val282Met) rs146432857 0.00002
NM_080680.3(COL11A2):c.1298G>A (p.Arg433Gln) rs762813373 0.00001
NM_080680.3(COL11A2):c.2099G>C (p.Gly700Ala) rs558103710 0.00001
NM_080680.3(COL11A2):c.3182G>A (p.Arg1061Gln) rs528982644 0.00001
NM_080680.3(COL11A2):c.4482G>A (p.Pro1494=) rs142586242 0.00001
NM_080680.3(COL11A2):c.1161G>T (p.Glu387Asp) rs192219284
NM_080680.3(COL11A2):c.1180-4A>G rs1554221961
NM_080680.3(COL11A2):c.136G>A (p.Gly46Ser) rs886044564
NM_080680.3(COL11A2):c.1370G>A (p.Gly457Asp) rs1554221493
NM_080680.3(COL11A2):c.1395T>G (p.Pro465=) rs1554221471
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_080680.3(COL11A2):c.1719+3dup rs1554220864
NM_080680.3(COL11A2):c.2081_2085delinsA (p.Gly694fs) rs886044584
NM_080680.3(COL11A2):c.2169+5C>T rs794727446
NM_080680.3(COL11A2):c.2431-18del rs9280359
NM_080680.3(COL11A2):c.2484+13del rs55730247
NM_080680.3(COL11A2):c.2584-10C>T rs886043444
NM_080680.3(COL11A2):c.2584-5del rs555657704
NM_080680.3(COL11A2):c.2797G>A (p.Ala933Thr) rs886043811
NM_080680.3(COL11A2):c.2899-9del rs397517477
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.3877C>T (p.Arg1293Ter) rs746754428
NM_080680.3(COL11A2):c.3999_4000delinsGC (p.Gly1334Arg) rs797044765
NM_080680.3(COL11A2):c.4369C>T (p.Pro1457Ser) rs1562310536
NM_080680.3(COL11A2):c.4767C>T (p.Asp1589=) rs886044178
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys) rs9277934
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351

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