ClinVar Miner

List of variants in gene COL9A1 reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu) rs192047082 0.00083
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg) rs149459564 0.00077
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln) rs143848379 0.00061
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) rs192467838 0.00041
NM_001851.6(COL9A1):c.1130G>A (p.Arg377His) rs142328549 0.00039
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu) rs138583508 0.00031
NM_001851.6(COL9A1):c.876+2dup rs672601329 0.00030
NM_001851.6(COL9A1):c.2011G>A (p.Glu671Lys) rs141825151 0.00029
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_001851.6(COL9A1):c.1070G>A (p.Arg357His) rs139288475 0.00016
NM_001851.6(COL9A1):c.80G>A (p.Arg27His) rs150026024 0.00016
NM_001851.6(COL9A1):c.1553A>T (p.Asp518Val) rs142539130 0.00013
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_001851.6(COL9A1):c.827C>T (p.Pro276Leu) rs200322941 0.00012
NM_001851.6(COL9A1):c.1055G>A (p.Arg352His) rs200540554 0.00011
NM_001851.6(COL9A1):c.1818+3A>G rs369133694 0.00011
NM_001851.6(COL9A1):c.512A>G (p.Asn171Ser) rs201634520 0.00011
NM_001851.6(COL9A1):c.344C>T (p.Thr115Met) rs200018557 0.00009
NM_001851.6(COL9A1):c.38T>C (p.Val13Ala) rs140274454 0.00009
NM_001851.6(COL9A1):c.808C>T (p.Pro270Ser) rs376107070 0.00009
NM_001851.6(COL9A1):c.1138C>T (p.Pro380Ser) rs368495915 0.00006
NM_001851.6(COL9A1):c.1384C>G (p.Gln462Glu) rs201364357 0.00006
NM_001851.6(COL9A1):c.1610C>T (p.Thr537Met) rs141895443 0.00006
NM_001851.6(COL9A1):c.2348G>A (p.Arg783His) rs375684014 0.00006
NM_001851.6(COL9A1):c.2623G>A (p.Gly875Ser) rs199581593 0.00006
NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr) rs141776183 0.00006
NM_001851.6(COL9A1):c.1202C>A (p.Thr401Lys) rs376664058 0.00005
NM_001851.6(COL9A1):c.1376T>C (p.Val459Ala) rs761676771 0.00005
NM_001851.6(COL9A1):c.2401C>T (p.Pro801Ser) rs147095719 0.00005
NM_001851.6(COL9A1):c.1322C>A (p.Pro441Gln) rs558743694 0.00004
NM_001851.6(COL9A1):c.1961C>T (p.Pro654Leu) rs766455840 0.00004
NM_001851.6(COL9A1):c.685G>A (p.Val229Ile) rs372320539 0.00004
NM_001851.6(COL9A1):c.1816C>T (p.Pro606Ser) rs773380068 0.00003
NM_001851.6(COL9A1):c.548T>C (p.Ile183Thr) rs759724577 0.00003
NM_001851.6(COL9A1):c.876+1G>C rs202232444 0.00003
NM_001851.6(COL9A1):c.116G>T (p.Gly39Val) rs781464240 0.00002
NM_001851.6(COL9A1):c.2204G>A (p.Arg735Gln) rs769986009 0.00002
NM_001851.6(COL9A1):c.2228C>T (p.Ala743Val) rs781246762 0.00002
NM_001851.6(COL9A1):c.2258C>T (p.Pro753Leu) rs763616322 0.00002
NM_001851.6(COL9A1):c.751A>G (p.Thr251Ala) rs1478081797 0.00002
NM_001851.6(COL9A1):c.1054C>T (p.Arg352Cys) rs1302609073 0.00001
NM_001851.6(COL9A1):c.1143+4A>G rs1224302280 0.00001
NM_001851.6(COL9A1):c.1291C>A (p.His431Asn) rs1411242839 0.00001
NM_001851.6(COL9A1):c.1661C>A (p.Thr554Lys) rs1771183436 0.00001
NM_001851.6(COL9A1):c.1817C>T (p.Pro606Leu) rs151066293 0.00001
NM_001851.6(COL9A1):c.194T>C (p.Val65Ala) rs371407785 0.00001
NM_001851.6(COL9A1):c.2158C>T (p.Arg720Trp) rs750991236 0.00001
NM_001851.6(COL9A1):c.2243G>T (p.Gly748Val) rs368781924 0.00001
NM_001851.6(COL9A1):c.2404G>A (p.Gly802Ser) rs774610828 0.00001
NM_001851.6(COL9A1):c.2590G>A (p.Gly864Ser) rs745421286 0.00001
NM_001851.6(COL9A1):c.567G>T (p.Arg189Ser) rs1296736202 0.00001
NM_001851.6(COL9A1):c.604G>A (p.Glu202Lys) rs779384045 0.00001
NM_001851.6(COL9A1):c.806G>T (p.Gly269Val) rs752119760 0.00001
NM_001851.6(COL9A1):c.809C>A (p.Pro270His) rs1032154290 0.00001
NM_001851.6(COL9A1):c.1040G>T (p.Gly347Val) rs764474418
NM_001851.6(COL9A1):c.1093C>T (p.Pro365Ser) rs2127590823
NM_001851.6(COL9A1):c.1218T>G (p.Asp406Glu) rs909640170
NM_001851.6(COL9A1):c.1225C>A (p.Pro409Thr) rs924516350
NM_001851.6(COL9A1):c.1230+5G>C rs990543556
NM_001851.6(COL9A1):c.1341+4A>G rs1772040993
NM_001851.6(COL9A1):c.1355A>G (p.Asp452Gly) rs2127583225
NM_001851.6(COL9A1):c.1396-6T>C rs1360782538
NM_001851.6(COL9A1):c.1508A>G (p.Asp503Gly)
NM_001851.6(COL9A1):c.1546A>G (p.Lys516Glu) rs1064796345
NM_001851.6(COL9A1):c.1557+6T>C rs1057518423
NM_001851.6(COL9A1):c.15G>T (p.Trp5Cys) rs746596955
NM_001851.6(COL9A1):c.1808C>T (p.Ser603Leu) rs2127574590
NM_001851.6(COL9A1):c.186G>C (p.Gln62His)
NM_001851.6(COL9A1):c.1952C>A (p.Pro651His) rs139305174
NM_001851.6(COL9A1):c.2036G>A (p.Gly679Asp) rs2127564614
NM_001851.6(COL9A1):c.2183C>T (p.Pro728Leu) rs1029245584
NM_001851.6(COL9A1):c.252G>T (p.Gln84His) rs1208726729
NM_001851.6(COL9A1):c.2546G>A (p.Gly849Asp) rs1769199680
NM_001851.6(COL9A1):c.2605G>C (p.Gly869Arg) rs2127544130
NM_001851.6(COL9A1):c.2617C>G (p.Arg873Gly) rs200829297
NM_001851.6(COL9A1):c.2630G>A (p.Arg877Gln) rs1408064118
NM_001851.6(COL9A1):c.2671C>T (p.Pro891Ser) rs763970167
NM_001851.6(COL9A1):c.2684C>T (p.Pro895Leu) rs758916884
NM_001851.6(COL9A1):c.397A>T (p.Ile133Phe)
NM_001851.6(COL9A1):c.468A>T (p.Ser156=)
NM_001851.6(COL9A1):c.559G>A (p.Val187Met) rs773143381
NM_001851.6(COL9A1):c.560T>G (p.Val187Gly) rs2127605012
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu) rs146700420
NM_001851.6(COL9A1):c.583T>C (p.Phe195Leu)
NM_001851.6(COL9A1):c.832G>T (p.Gly278Trp) rs1224223702
NM_001851.6(COL9A1):c.959G>A (p.Gly320Asp) rs187291813
NM_001851.6(COL9A1):c.976-3T>G rs2127592930

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