ClinVar Miner

List of variants in gene COL11A2 reported as uncertain significance for otospondylomegaepiphyseal dysplasia, autosomal dominant

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_080680.3(COL11A2):c.-226C>T rs886061320 0.00068
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=) rs113067047 0.00068
NM_080680.3(COL11A2):c.1819-10G>A rs3129202 0.00024
NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro) rs138045609 0.00020
NM_080680.3(COL11A2):c.4751-12C>G rs921581176 0.00019
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met) rs201076557 0.00016
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260 0.00016
NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val) rs201981435 0.00014
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=) rs146962984 0.00014
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) rs140017436 0.00014
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_080680.3(COL11A2):c.1698C>T (p.Leu566=) rs139350991 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_080680.3(COL11A2):c.1178C>T (p.Pro393Leu) rs140266192 0.00011
NM_080680.3(COL11A2):c.2676A>T (p.Gly892=) rs1405058032 0.00010
NM_080680.3(COL11A2):c.5071-7C>G rs200548977 0.00010
NM_080680.3(COL11A2):c.*429G>T rs760188928 0.00008
NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly) rs775641112 0.00008
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=) rs745568808 0.00006
NM_080680.3(COL11A2):c.277C>T (p.Arg93Cys) rs372449299 0.00006
NM_080680.3(COL11A2):c.4706G>A (p.Arg1569His) rs749716412 0.00006
NM_080680.3(COL11A2):c.*544C>G rs199956729 0.00005
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp) rs370966667 0.00005
NM_080680.3(COL11A2):c.579C>T (p.Ala193=) rs201054429 0.00005
NM_080680.3(COL11A2):c.*536C>T rs886061312 0.00004
NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala) rs779116250 0.00004
NM_080680.3(COL11A2):c.191G>A (p.Arg64Gln) rs374898022 0.00004
NM_080680.3(COL11A2):c.3267G>A (p.Val1089=) rs781462105 0.00004
NM_080680.3(COL11A2):c.362G>A (p.Arg121His) rs148765616 0.00004
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys) rs758507327 0.00004
NM_080680.3(COL11A2):c.587T>C (p.Leu196Pro) rs150982987 0.00004
NM_080680.3(COL11A2):c.622C>T (p.Leu208=) rs200272494 0.00004
NM_080680.3(COL11A2):c.-21C>G rs767695417 0.00003
NM_080680.3(COL11A2):c.4983C>T (p.Asp1661=) rs528251146 0.00003
NM_080680.3(COL11A2):c.628A>G (p.Ile210Val) rs778295133 0.00003
NM_080680.3(COL11A2):c.1714C>A (p.His572Asn) rs751888761 0.00002
NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser) rs768902062 0.00002
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys) rs751612997 0.00002
NM_080680.3(COL11A2):c.*439C>A rs886061313 0.00001
NM_080680.3(COL11A2):c.2416C>T (p.Arg806Cys) rs376355040 0.00001
NM_080680.3(COL11A2):c.2431-4C>T rs1457746213 0.00001
NM_080680.3(COL11A2):c.2530-4G>A rs891664323 0.00001
NM_080680.3(COL11A2):c.3775G>A (p.Asp1259Asn) rs1205676646 0.00001
NM_080680.3(COL11A2):c.3794A>G (p.Asn1265Ser) rs1769701069 0.00001
NM_080680.3(COL11A2):c.3850C>T (p.Arg1284Trp) rs886061315 0.00001
NM_080680.3(COL11A2):c.4228A>G (p.Lys1410Glu) rs780158388 0.00001
NM_080680.3(COL11A2):c.4231-4C>G rs564087840 0.00001
NM_080680.3(COL11A2):c.453T>C (p.Arg151=) rs147115504 0.00001
NM_080680.3(COL11A2):c.4951G>A (p.Val1651Ile) rs766589324 0.00001
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln) rs781633250 0.00001
NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=) rs142893093 0.00001
NM_080680.3(COL11A2):c.799-3C>T rs1772340099 0.00001
NM_080680.3(COL11A2):c.*248C>A rs886061314
NM_080680.3(COL11A2):c.*393A>G rs1768602218
NM_080680.3(COL11A2):c.*485G>C rs1768585045
NM_080680.3(COL11A2):c.*788A>C rs773303307
NM_080680.3(COL11A2):c.*819C>T rs1453667316
NM_080680.3(COL11A2):c.-79T>C rs1773232423
NM_080680.3(COL11A2):c.-92A>G rs886061319
NM_080680.3(COL11A2):c.1129_1130dup (p.Pro378fs)
NM_080680.3(COL11A2):c.1231G>T (p.Gly411Cys) rs1771618390
NM_080680.3(COL11A2):c.1471C>T (p.Pro491Ser)
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_080680.3(COL11A2):c.1697T>G (p.Leu566Arg) rs1771274896
NM_080680.3(COL11A2):c.1869C>G (p.Pro623=) rs1771179784
NM_080680.3(COL11A2):c.2054G>C (p.Gly685Ala) rs757431548
NM_080680.3(COL11A2):c.2220G>A (p.Glu740=) rs202032297
NM_080680.3(COL11A2):c.222G>A (p.Gln74=) rs1772815896
NM_080680.3(COL11A2):c.2299G>A (p.Glu767Lys) rs1770799762
NM_080680.3(COL11A2):c.2477G>C (p.Gly826Ala) rs767536947
NM_080680.3(COL11A2):c.2666G>A (p.Gly889Glu) rs1770440344
NM_080680.3(COL11A2):c.2709G>A (p.Pro903=) rs779878105
NM_080680.3(COL11A2):c.3150+7G>T rs1327272043
NM_080680.3(COL11A2):c.3370G>A (p.Ala1124Thr) rs886061316
NM_080680.3(COL11A2):c.3778G>C (p.Asp1260His) rs1769705019
NM_080680.3(COL11A2):c.3907-5C>T rs1194309539
NM_080680.3(COL11A2):c.3959G>T (p.Arg1320Leu) rs372143434
NM_080680.3(COL11A2):c.4280A>G (p.Glu1427Gly)
NM_080680.3(COL11A2):c.4777G>A (p.Gly1593Ser) rs1369015834
NM_080680.3(COL11A2):c.830C>A (p.Pro277His) rs886061318
NM_080680.3(COL11A2):c.920T>A (p.Leu307His) rs1772205515
NM_080680.3(COL11A2):c.939G>C (p.Glu313Asp) rs886061317
NM_080680.3(COL11A2):c.967dup (p.Thr323fs) rs774545390

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