ClinVar Miner

List of variants in gene COL9A1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.1504-32T>G rs633762 0.83978
NM_001851.6(COL9A1):c.1765-26T>C rs519068 0.48558
NM_001851.6(COL9A1):c.1015T>C (p.Ser339Pro) rs592121 0.46927
NM_001851.6(COL9A1):c.1720-24A>C rs701690 0.42215
NM_001851.6(COL9A1):c.1862A>G (p.Gln621Arg) rs1135056 0.38283
NM_001851.6(COL9A1):c.2259+32T>C rs12191701 0.36512
NM_001851.6(COL9A1):c.975+45G>A rs7764822 0.21907
NM_001851.6(COL9A1):c.14+39A>G rs2242588 0.21553
NM_001851.6(COL9A1):c.89-12T>C rs12210123 0.20825
NM_001851.6(COL9A1):c.1230+12T>C rs6935778 0.15856
NM_001851.6(COL9A1):c.1612-26C>A rs13219431 0.13355
NM_001851.6(COL9A1):c.1071T>C (p.Arg357=) rs607156 0.07381
NM_001851.6(COL9A1):c.1066-36C>A rs77357454 0.04608
NM_001851.6(COL9A1):c.876+13C>T rs117215769 0.04499
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val) rs6910140 0.04394
NM_001851.6(COL9A1):c.1504-14T>A rs537940 0.04260
NM_001851.6(COL9A1):c.1066-3T>C rs16868869 0.03394
NM_001851.6(COL9A1):c.2470C>A (p.Pro824Thr) rs34119578 0.01848
NM_001851.6(COL9A1):c.2271G>A (p.Pro757=) rs2072650 0.01180
NM_001851.6(COL9A1):c.1666-32G>A rs72923190 0.00751
NM_001851.6(COL9A1):c.1656T>C (p.Pro552=) rs80251646 0.00493
NM_001851.6(COL9A1):c.1197+11T>C rs73745357 0.00388
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858 0.00348
NM_001851.6(COL9A1):c.1089+9C>G rs142247988 0.00221
NM_001851.6(COL9A1):c.138G>A (p.Lys46=) rs139361722 0.00214
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser) rs151129325 0.00207
NM_001851.6(COL9A1):c.801+11G>C rs200305129 0.00113
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu) rs192047082 0.00083
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala) rs202176764 0.00079
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg) rs149459564 0.00077
NM_001851.6(COL9A1):c.2113-19G>A rs187218937 0.00076
NM_001851.6(COL9A1):c.1053G>A (p.Ser351=) rs75433477 0.00067
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu) rs138583508 0.00031
NM_001851.6(COL9A1):c.1569T>A (p.Gly523=) rs150970524 0.00027
NM_001851.6(COL9A1):c.795C>G (p.Thr265=) rs149067801 0.00019
NM_001851.6(COL9A1):c.976-10G>T rs200618486 0.00019
NM_001851.6(COL9A1):c.2754G>A (p.Gly918=) rs373430094 0.00012
NM_001851.6(COL9A1):c.1554T>C (p.Asp518=) rs746982749 0.00011
NM_001851.6(COL9A1):c.780+7C>A rs370822868 0.00011
NM_001851.6(COL9A1):c.674A>T (p.Asp225Val) rs186444567 0.00009
NM_001851.6(COL9A1):c.808C>T (p.Pro270Ser) rs376107070 0.00009
NM_001851.6(COL9A1):c.15-3C>T rs367798424 0.00007
NM_001851.6(COL9A1):c.1504-3C>T rs533952787 0.00006
NM_001851.6(COL9A1):c.1465G>C (p.Asp489His) rs550014166 0.00003
NM_001851.6(COL9A1):c.167-11C>T rs370460481 0.00003
NM_001851.6(COL9A1):c.83G>A (p.Arg28His) rs778243284 0.00003
NM_001851.6(COL9A1):c.1256G>A (p.Arg419His) rs757314373 0.00002
NM_001851.6(COL9A1):c.1458G>C (p.Arg486=) rs569743763 0.00001
NM_001851.6(COL9A1):c.166+12T>C rs886038498 0.00001
NM_001851.6(COL9A1):c.441T>G (p.Asn147Lys) rs375575411 0.00001
NM_001851.6(COL9A1):c.621G>A (p.Lys207=) rs374217818 0.00001
NM_001851.6(COL9A1):c.88A>G (p.Arg30Gly) rs375052968 0.00001
NM_001851.6(COL9A1):c.999C>T (p.Ser333=) rs1034787678 0.00001
NM_001851.6(COL9A1):c.1143+10A>C
NM_001851.6(COL9A1):c.1342-14dup rs537445397
NM_001851.6(COL9A1):c.1342-7T>G
NM_001851.6(COL9A1):c.1342-8_1342-7del
NM_001851.6(COL9A1):c.154G>C (p.Asp52His)
NM_001851.6(COL9A1):c.167-4A>T
NM_001851.6(COL9A1):c.1728T>G (p.Pro576=) rs9346373
NM_001851.6(COL9A1):c.1765-21G>A rs2274584
NM_001851.6(COL9A1):c.2034+19T>C rs13202029
NM_001851.6(COL9A1):c.2034+19T>G rs13202029
NM_001851.6(COL9A1):c.2074G>A (p.Glu692Lys)
NM_001851.6(COL9A1):c.2225G>A (p.Gly742Asp) rs1206093741
NM_001851.6(COL9A1):c.2485G>A (p.Gly829Ser)
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu) rs146700420
NM_001851.6(COL9A1):c.619A>G (p.Lys207Glu)
NM_001851.6(COL9A1):c.654T>A (p.Ala218=)
NM_001851.6(COL9A1):c.781-137G>A

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