ClinVar Miner

List of variants in gene COL11A1 reported by Eurofins NTD LLC (GA)

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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu) rs3753841 0.50032
NM_001854.4(COL11A1):c.660T>C (p.Ile220=) rs71664966 0.11088
NM_001854.4(COL11A1):c.1308+19A>G rs34587338 0.08015
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=) rs111841420 0.02418
NM_001854.4(COL11A1):c.1944+11T>C rs71664954 0.02235
NM_001854.4(COL11A1):c.4140+10A>T rs187171126 0.00906
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu) rs55821405 0.00284
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val) rs145901197 0.00274
NM_001854.4(COL11A1):c.2766A>G (p.Gly922=) rs139911745 0.00267
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=) rs112577505 0.00251
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647 0.00233
NM_001854.4(COL11A1):c.3979-3T>C rs138464908 0.00188
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser) rs114630202 0.00174
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=) rs147247206 0.00096
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00088
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470 0.00070
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855 0.00064
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674 0.00061
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn) rs143663917 0.00031
NM_001854.4(COL11A1):c.1489-5C>A rs370997745 0.00029
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925 0.00014
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161 0.00010
NM_001854.4(COL11A1):c.3984A>G (p.Gln1328=) rs767276283 0.00006
NM_001854.4(COL11A1):c.2097+3A>G rs770210430 0.00005
NM_001854.4(COL11A1):c.2241+6T>C rs374197371 0.00004
NM_001854.4(COL11A1):c.4377C>T (p.Gly1459=) rs917541931 0.00004
NM_001854.4(COL11A1):c.510C>T (p.Ser170=) rs749497678 0.00004
NM_001854.4(COL11A1):c.2098-4A>T rs759906097 0.00003
NM_001854.4(COL11A1):c.2754+4C>T rs201183993 0.00002
NM_001854.4(COL11A1):c.4320T>C (p.Pro1440=) rs762511819 0.00002
NM_001854.4(COL11A1):c.1359G>A (p.Met453Ile) rs755173952 0.00001
NM_001854.4(COL11A1):c.1414-9T>A rs794727062 0.00001
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601 0.00001
NM_001854.4(COL11A1):c.2610+9T>C rs754222130 0.00001
NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn) rs779028602 0.00001
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu) rs753649097 0.00001
NM_001854.4(COL11A1):c.4859-3T>C rs774985706 0.00001
NM_001854.4(COL11A1):c.893C>T (p.Thr298Met) rs398123652 0.00001
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu) rs141817156
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[13] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.2143-10dup rs747240373
NM_001854.4(COL11A1):c.2225G>C (p.Gly742Ala) rs886044320
NM_001854.4(COL11A1):c.2369G>A (p.Gly790Asp) rs886044242
NM_001854.4(COL11A1):c.2976T>C (p.Pro992=) rs368868551
NM_001854.4(COL11A1):c.3128T>C (p.Leu1043Pro) rs886044176
NM_001854.4(COL11A1):c.3168+1G>T rs886042653
NM_001854.4(COL11A1):c.3301G>T (p.Ala1101Ser) rs1557849897
NM_001854.4(COL11A1):c.3709-1G>A rs727503881
NM_001854.4(COL11A1):c.3816+1G>A rs398122828
NM_001854.4(COL11A1):c.3998_4009del (p.Gly1333_Gly1336del) rs886042660
NM_001854.4(COL11A1):c.4032+1G>A rs1553200868
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val) rs1553193910
NM_001854.4(COL11A1):c.4554+1G>C rs886044244
NM_001854.4(COL11A1):c.4642A>G (p.Ile1548Val) rs1557775198
NM_001854.4(COL11A1):c.652-11_652-10insTTG rs776283234
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001854.4(COL11A1):c.652-7_652-6del rs36076089

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