ClinVar Miner

List of variants in gene COL9A1 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 479
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HGVS dbSNP gnomAD frequency
NM_001851.6(COL9A1):c.904G>A (p.Gly302Ser) rs151129325 0.00207
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.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.2436G>T (p.Gln812His) rs141830060 0.00039
NM_001851.6(COL9A1):c.452A>T (p.Gln151Leu) rs149389568 0.00033
NM_001851.6(COL9A1):c.333C>T (p.Tyr111=) rs141047907 0.00031
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.1423G>A (p.Gly475Ser) rs143320197 0.00024
NM_001851.6(COL9A1):c.1553A>T (p.Asp518Val) rs142539130 0.00019
NM_001851.6(COL9A1):c.1070G>A (p.Arg357His) rs139288475 0.00016
NM_001851.6(COL9A1):c.680C>T (p.Pro227Leu) rs145207010 0.00016
NM_001851.6(COL9A1):c.80G>A (p.Arg27His) rs150026024 0.00016
NM_001851.6(COL9A1):c.1426A>G (p.Ile476Val) rs1135054 0.00014
NM_001851.6(COL9A1):c.1558G>A (p.Gly520Arg) rs147731531 0.00014
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.1282A>C (p.Met428Leu) rs146274972 0.00011
NM_001851.6(COL9A1):c.1665+5G>T rs369698214 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.1192C>T (p.Pro398Ser) rs142579851 0.00010
NM_001851.6(COL9A1):c.462A>G (p.Val154=) rs150571620 0.00010
NM_001851.6(COL9A1):c.1718C>T (p.Pro573Leu) rs746183818 0.00009
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.11G>A (p.Cys4Tyr) rs547666229 0.00008
NM_001851.6(COL9A1):c.1384C>G (p.Gln462Glu) rs201364357 0.00007
NM_001851.6(COL9A1):c.15-3C>T rs367798424 0.00007
NM_001851.6(COL9A1):c.1138C>T (p.Pro380Ser) rs368495915 0.00006
NM_001851.6(COL9A1):c.1504-3C>T rs533952787 0.00006
NM_001851.6(COL9A1):c.1610C>T (p.Thr537Met) rs141895443 0.00006
NM_001851.6(COL9A1):c.1611G>A (p.Thr537=) rs529005717 0.00006
NM_001851.6(COL9A1):c.2035-5T>A rs750454914 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.584T>C (p.Phe195Ser) rs776065464 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.1562C>T (p.Ala521Val) rs773325813 0.00005
NM_001851.6(COL9A1):c.166+5G>A rs544432669 0.00005
NM_001851.6(COL9A1):c.2401C>T (p.Pro801Ser) rs147095719 0.00005
NM_001851.6(COL9A1):c.2675C>T (p.Pro892Leu) rs760617713 0.00005
NM_001851.6(COL9A1):c.107A>G (p.Asn36Ser) rs1264829149 0.00004
NM_001851.6(COL9A1):c.1141G>A (p.Val381Ile) rs1245320559 0.00004
NM_001851.6(COL9A1):c.1201A>G (p.Thr401Ala) rs138091050 0.00004
NM_001851.6(COL9A1):c.1322C>A (p.Pro441Gln) rs558743694 0.00004
NM_001851.6(COL9A1):c.1505G>A (p.Gly502Asp) rs376101677 0.00004
NM_001851.6(COL9A1):c.1682C>G (p.Pro561Arg) rs982761741 0.00004
NM_001851.6(COL9A1):c.1877G>A (p.Ser626Asn) rs758159064 0.00004
NM_001851.6(COL9A1):c.1961C>T (p.Pro654Leu) rs766455840 0.00004
NM_001851.6(COL9A1):c.2008G>A (p.Gly670Ser) rs778543412 0.00004
NM_001851.6(COL9A1):c.685G>A (p.Val229Ile) rs372320539 0.00004
NM_001851.6(COL9A1):c.6G>T (p.Lys2Asn) rs775789844 0.00004
NM_001851.6(COL9A1):c.899C>T (p.Pro300Leu) rs757897415 0.00004
NM_001851.6(COL9A1):c.1369G>A (p.Gly457Arg) rs148011193 0.00003
NM_001851.6(COL9A1):c.143G>T (p.Arg48Met) rs368399817 0.00003
NM_001851.6(COL9A1):c.1748G>A (p.Gly583Asp) rs765037928 0.00003
NM_001851.6(COL9A1):c.2527C>T (p.Arg843Cys) rs143217938 0.00003
NM_001851.6(COL9A1):c.548T>C (p.Ile183Thr) rs759724577 0.00003
NM_001851.6(COL9A1):c.824G>C (p.Gly275Ala) rs891118219 0.00003
NM_001851.6(COL9A1):c.876+1G>C rs202232444 0.00003
NM_001851.6(COL9A1):c.1036C>T (p.Pro346Ser) rs779666896 0.00002
NM_001851.6(COL9A1):c.116G>T (p.Gly39Val) rs781464240 0.00002
NM_001851.6(COL9A1):c.1197+6T>A rs377762690 0.00002
NM_001851.6(COL9A1):c.1238A>G (p.Asn413Ser) rs202034701 0.00002
NM_001851.6(COL9A1):c.127C>T (p.Leu43Phe) rs372737493 0.00002
NM_001851.6(COL9A1):c.131G>C (p.Cys44Ser) rs1375599039 0.00002
NM_001851.6(COL9A1):c.1541G>T (p.Gly514Val) rs1176050943 0.00002
NM_001851.6(COL9A1):c.1561G>C (p.Ala521Pro) rs1402008313 0.00002
NM_001851.6(COL9A1):c.1598C>T (p.Pro533Leu) rs768487303 0.00002
NM_001851.6(COL9A1):c.1853G>A (p.Arg618Gln) rs761249181 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.2237T>G (p.Leu746Arg) rs1251807389 0.00002
NM_001851.6(COL9A1):c.2258C>T (p.Pro753Leu) rs763616322 0.00002
NM_001851.6(COL9A1):c.2270C>T (p.Pro757Leu) rs757218488 0.00002
NM_001851.6(COL9A1):c.2276A>T (p.Asp759Val) rs752385858 0.00002
NM_001851.6(COL9A1):c.2335G>T (p.Ala779Ser) rs961499099 0.00002
NM_001851.6(COL9A1):c.2528G>A (p.Arg843His) rs547618159 0.00002
NM_001851.6(COL9A1):c.2569A>G (p.Ile857Val) rs768737537 0.00002
NM_001851.6(COL9A1):c.490C>T (p.Leu164Phe) rs749263101 0.00002
NM_001851.6(COL9A1):c.509C>T (p.Ser170Leu) rs780899445 0.00002
NM_001851.6(COL9A1):c.641T>C (p.Ile214Thr) rs551707191 0.00002
NM_001851.6(COL9A1):c.751A>G (p.Thr251Ala) rs1478081797 0.00002
NM_001851.6(COL9A1):c.780G>T (p.Thr260=) rs374569401 0.00002
NM_001851.6(COL9A1):c.817G>A (p.Glu273Lys) rs374036753 0.00002
NM_001851.6(COL9A1):c.1054C>T (p.Arg352Cys) rs1302609073 0.00001
NM_001851.6(COL9A1):c.1105G>T (p.Ala369Ser) rs768904572 0.00001
NM_001851.6(COL9A1):c.1143+4A>G rs1224302280 0.00001
NM_001851.6(COL9A1):c.1258T>A (p.Ser420Thr) rs971866455 0.00001
NM_001851.6(COL9A1):c.1291C>A (p.His431Asn) rs1411242839 0.00001
NM_001851.6(COL9A1):c.1304A>G (p.Lys435Arg) rs201798341 0.00001
NM_001851.6(COL9A1):c.133C>A (p.Pro45Thr) rs1293482329 0.00001
NM_001851.6(COL9A1):c.1341+5G>A rs794727203 0.00001
NM_001851.6(COL9A1):c.1366C>T (p.Leu456Phe) rs751839615 0.00001
NM_001851.6(COL9A1):c.1375G>T (p.Val459Phe) rs1302661247 0.00001
NM_001851.6(COL9A1):c.1394C>T (p.Pro465Leu) rs1354769954 0.00001
NM_001851.6(COL9A1):c.1412G>A (p.Arg471Gln) rs773570789 0.00001
NM_001851.6(COL9A1):c.1481C>T (p.Pro494Leu) rs769158574 0.00001
NM_001851.6(COL9A1):c.1567G>A (p.Gly523Ser) rs1461660189 0.00001
NM_001851.6(COL9A1):c.1633C>T (p.Arg545Cys) rs780405287 0.00001
NM_001851.6(COL9A1):c.1655C>T (p.Pro552Leu) rs753916112 0.00001
NM_001851.6(COL9A1):c.1661C>A (p.Thr554Lys) rs1771183436 0.00001
NM_001851.6(COL9A1):c.1816C>T (p.Pro606Ser) rs773380068 0.00001
NM_001851.6(COL9A1):c.1817C>T (p.Pro606Leu) rs151066293 0.00001
NM_001851.6(COL9A1):c.1818G>A (p.Pro606=) rs1296099818 0.00001
NM_001851.6(COL9A1):c.1926+6T>G rs372289111 0.00001
NM_001851.6(COL9A1):c.1928G>T (p.Gly643Val) rs1770293261 0.00001
NM_001851.6(COL9A1):c.1939A>C (p.Ser647Arg) rs200194450 0.00001
NM_001851.6(COL9A1):c.194T>C (p.Val65Ala) rs371407785 0.00001
NM_001851.6(COL9A1):c.1966C>T (p.Pro656Ser) rs773476642 0.00001
NM_001851.6(COL9A1):c.2003T>C (p.Val668Ala) rs1199161003 0.00001
NM_001851.6(COL9A1):c.2006T>G (p.Val669Gly) rs1231559197 0.00001
NM_001851.6(COL9A1):c.2015C>T (p.Pro672Leu) rs765463295 0.00001
NM_001851.6(COL9A1):c.2146C>T (p.Pro716Ser) rs977443998 0.00001
NM_001851.6(COL9A1):c.2150A>C (p.Glu717Ala) rs955449925 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.2260-3C>T rs1305147526 0.00001
NM_001851.6(COL9A1):c.2333C>T (p.Ala778Val) rs767229176 0.00001
NM_001851.6(COL9A1):c.2404G>A (p.Gly802Ser) rs774610828 0.00001
NM_001851.6(COL9A1):c.2416G>C (p.Glu806Gln) rs1391517875 0.00001
NM_001851.6(COL9A1):c.2456C>T (p.Pro819Leu) rs144581626 0.00001
NM_001851.6(COL9A1):c.2537C>G (p.Pro846Arg) rs201978369 0.00001
NM_001851.6(COL9A1):c.2552A>G (p.Asn851Ser) rs578034223 0.00001
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=) rs1135057 0.00001
NM_001851.6(COL9A1):c.2582-3C>T rs760704462 0.00001
NM_001851.6(COL9A1):c.2590G>A (p.Gly864Ser) rs745421286 0.00001
NM_001851.6(COL9A1):c.2711C>G (p.Ala904Gly) rs1028844209 0.00001
NM_001851.6(COL9A1):c.2723T>C (p.Met908Thr) rs1412263011 0.00001
NM_001851.6(COL9A1):c.2737C>T (p.Arg913Ter) rs145221543 0.00001
NM_001851.6(COL9A1):c.317G>A (p.Gly106Glu) rs142447527 0.00001
NM_001851.6(COL9A1):c.340T>G (p.Leu114Val) rs769945785 0.00001
NM_001851.6(COL9A1):c.347C>T (p.Thr116Met) rs768503089 0.00001
NM_001851.6(COL9A1):c.357G>T (p.Met119Ile) rs753433014 0.00001
NM_001851.6(COL9A1):c.403G>A (p.Asp135Asn) rs774360157 0.00001
NM_001851.6(COL9A1):c.410C>T (p.Ser137Phe) rs1773776302 0.00001
NM_001851.6(COL9A1):c.437T>G (p.Ile146Ser) rs780230984 0.00001
NM_001851.6(COL9A1):c.441T>G (p.Asn147Lys) rs375575411 0.00001
NM_001851.6(COL9A1):c.503C>G (p.Ala168Gly) rs199822035 0.00001
NM_001851.6(COL9A1):c.567G>T (p.Arg189Ser) rs1296736202 0.00001
NM_001851.6(COL9A1):c.578C>T (p.Thr193Ile) rs1366088068 0.00001
NM_001851.6(COL9A1):c.604G>A (p.Glu202Lys) rs779384045 0.00001
NM_001851.6(COL9A1):c.626G>A (p.Arg209Lys) rs571441243 0.00001
NM_001851.6(COL9A1):c.721C>T (p.His241Tyr) rs762463023 0.00001
NM_001851.6(COL9A1):c.755G>A (p.Cys252Tyr) rs1001980199 0.00001
NM_001851.6(COL9A1):c.759T>A (p.His253Gln) rs1264012472 0.00001
NM_001851.6(COL9A1):c.779C>A (p.Thr260Lys) rs1269362157 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.876C>T (p.Asp292=) rs199570724 0.00001
NM_001851.6(COL9A1):c.877G>A (p.Gly293Ser) rs780415209 0.00001
NM_001851.6(COL9A1):c.88+7G>C rs755501266 0.00001
NM_001851.6(COL9A1):c.88A>G (p.Arg30Gly) rs375052968 0.00001
NM_001851.6(COL9A1):c.890C>T (p.Pro297Leu) rs746311583 0.00001
NM_001851.6(COL9A1):c.912G>A (p.Pro304=) rs751410284 0.00001
NM_001851.6(COL9A1):c.964C>G (p.Pro322Ala) rs1773107843 0.00001
NM_001851.6(COL9A1):c.968G>T (p.Gly323Val) rs1005971460 0.00001
NM_001851.6(COL9A1):c.971C>G (p.Ala324Gly) rs750301684 0.00001
GRCh37/hg19 6q13(chr6:71000209-71059571)x3
NC_000006.11:g.(?_70926600)_(70973020_?)del
NC_000006.11:g.(?_70926600)_(70993543_?)del
NC_000006.12:g.70281005GGGGGGCCC[3] rs747511400
NM_001851.6(COL9A1):c.1006T>C (p.Ser336Pro)
NM_001851.6(COL9A1):c.1013G>A (p.Gly338Glu) rs778526641
NM_001851.6(COL9A1):c.101A>G (p.Asn34Ser) rs919833388
NM_001851.6(COL9A1):c.1029+3_1029+6del rs1772637811
NM_001851.6(COL9A1):c.1029+4dup rs2127592864
NM_001851.6(COL9A1):c.1036C>A (p.Pro346Thr) rs779666896
NM_001851.6(COL9A1):c.1039G>C (p.Gly347Arg)
NM_001851.6(COL9A1):c.1040G>C (p.Gly347Ala) rs764474418
NM_001851.6(COL9A1):c.1040G>T (p.Gly347Val) rs764474418
NM_001851.6(COL9A1):c.1042G>A (p.Val348Met)
NM_001851.6(COL9A1):c.1052C>T (p.Ser351Leu)
NM_001851.6(COL9A1):c.1069C>T (p.Arg357Cys)
NM_001851.6(COL9A1):c.1071_1072inv (p.Gly358Ser)
NM_001851.6(COL9A1):c.1084C>T (p.Pro362Ser)
NM_001851.6(COL9A1):c.1085C>G (p.Pro362Arg) rs374255811
NM_001851.6(COL9A1):c.1085C>T (p.Pro362Leu) rs374255811
NM_001851.6(COL9A1):c.1089T>C (p.Pro363=)
NM_001851.6(COL9A1):c.1091G>A (p.Gly364Asp)
NM_001851.6(COL9A1):c.1093C>T (p.Pro365Ser) rs2127590823
NM_001851.6(COL9A1):c.1102A>G (p.Thr368Ala) rs1421369706
NM_001851.6(COL9A1):c.1124T>C (p.Leu375Pro) rs1405862928
NM_001851.6(COL9A1):c.1129C>T (p.Arg377Cys)
NM_001851.6(COL9A1):c.1141G>C (p.Val381Leu)
NM_001851.6(COL9A1):c.1189G>A (p.Gly397Arg)
NM_001851.6(COL9A1):c.1198-6_1198-2del rs2127589264
NM_001851.6(COL9A1):c.1204A>C (p.Ile402Leu) rs2127589256
NM_001851.6(COL9A1):c.1205T>C (p.Ile402Thr)
NM_001851.6(COL9A1):c.1218T>G (p.Asp406Glu) rs909640170
NM_001851.6(COL9A1):c.1220G>A (p.Gly407Glu)
NM_001851.6(COL9A1):c.1225C>A (p.Pro409Thr) rs924516350
NM_001851.6(COL9A1):c.1230+12_1230+13delinsCT
NM_001851.6(COL9A1):c.1230+5G>C rs990543556
NM_001851.6(COL9A1):c.1232G>A (p.Cys411Tyr)
NM_001851.6(COL9A1):c.1234C>T (p.Pro412Ser) rs2127588500
NM_001851.6(COL9A1):c.123T>A (p.Asn41Lys) rs905464646
NM_001851.6(COL9A1):c.1240G>T (p.Ala414Ser) rs1772210895
NM_001851.6(COL9A1):c.1246C>A (p.Pro416Thr)
NM_001851.6(COL9A1):c.1247C>T (p.Pro416Leu)
NM_001851.6(COL9A1):c.1252G>A (p.Gly418Ser)
NM_001851.6(COL9A1):c.1263A>T (p.Gly421=)
NM_001851.6(COL9A1):c.1276C>T (p.Pro426Ser)
NM_001851.6(COL9A1):c.1279G>A (p.Gly427Ser) rs2127588403
NM_001851.6(COL9A1):c.1287+5G>A
NM_001851.6(COL9A1):c.1312A>G (p.Ile438Val) rs138518556
NM_001851.6(COL9A1):c.1336C>T (p.His446Tyr)
NM_001851.6(COL9A1):c.1341+18T>G rs1772039300
NM_001851.6(COL9A1):c.1341+4A>G rs1772040993
NM_001851.6(COL9A1):c.1342-11_1342-3del rs774856588
NM_001851.6(COL9A1):c.1352G>A (p.Gly451Asp) rs1771811070
NM_001851.6(COL9A1):c.1355A>G (p.Asp452Gly) rs2127583225
NM_001851.6(COL9A1):c.1365A>T (p.Glu455Asp) rs1468996914
NM_001851.6(COL9A1):c.1391C>A (p.Pro464His) rs1554240668
NM_001851.6(COL9A1):c.1396-19_1396-15del
NM_001851.6(COL9A1):c.1396-6T>C rs1360782538
NM_001851.6(COL9A1):c.1403A>T (p.Gln468Leu)
NM_001851.6(COL9A1):c.140T>C (p.Ile47Thr) rs1774015865
NM_001851.6(COL9A1):c.1414G>A (p.Gly472Ser)
NM_001851.6(COL9A1):c.1418T>C (p.Ile473Thr)
NM_001851.6(COL9A1):c.1427_1449+17dup
NM_001851.6(COL9A1):c.1430T>C (p.Val477Ala)
NM_001851.6(COL9A1):c.1449+11G>A
NM_001851.6(COL9A1):c.1450G>A (p.Gly484Ser) rs1771329366
NM_001851.6(COL9A1):c.1456C>T (p.Arg486Trp) rs752641733
NM_001851.6(COL9A1):c.1474C>A (p.Pro492Thr)
NM_001851.6(COL9A1):c.1475C>T (p.Pro492Leu)
NM_001851.6(COL9A1):c.1486G>C (p.Gly496Arg)
NM_001851.6(COL9A1):c.1498G>A (p.Ala500Thr)
NM_001851.6(COL9A1):c.1503+6T>C
NM_001851.6(COL9A1):c.1504G>C (p.Gly502Arg) rs774226488
NM_001851.6(COL9A1):c.1505G>T (p.Gly502Val) rs376101677
NM_001851.6(COL9A1):c.1508A>G (p.Asp503Gly)
NM_001851.6(COL9A1):c.1520G>A (p.Arg507Gln) rs777963373
NM_001851.6(COL9A1):c.1538C>T (p.Ala513Val) rs1221404677
NM_001851.6(COL9A1):c.1546A>G (p.Lys516Glu) rs1064796345
NM_001851.6(COL9A1):c.1559G>A (p.Gly520Glu)
NM_001851.6(COL9A1):c.155A>T (p.Asp52Val) rs886044243
NM_001851.6(COL9A1):c.1562C>A (p.Ala521Asp)
NM_001851.6(COL9A1):c.1586G>A (p.Gly529Asp)
NM_001851.6(COL9A1):c.15G>T (p.Trp5Cys) rs746596955
NM_001851.6(COL9A1):c.1611+6T>C rs1771197044
NM_001851.6(COL9A1):c.1617G>T (p.Leu539Phe)
NM_001851.6(COL9A1):c.1618C>T (p.Pro540Ser)
NM_001851.6(COL9A1):c.1622G>A (p.Gly541Asp) rs755767798
NM_001851.6(COL9A1):c.1627G>C (p.Asp543His) rs1771186677
NM_001851.6(COL9A1):c.163C>T (p.Pro55Ser) rs1489422710
NM_001851.6(COL9A1):c.1640G>A (p.Gly547Glu) rs1427326341
NM_001851.6(COL9A1):c.1640G>T (p.Gly547Val)
NM_001851.6(COL9A1):c.166+3G>A
NM_001851.6(COL9A1):c.1666-16A>G rs2127576389
NM_001851.6(COL9A1):c.1673C>T (p.Pro558Leu)
NM_001851.6(COL9A1):c.167G>A (p.Gly56Glu) rs2127608373
NM_001851.6(COL9A1):c.1697A>T (p.Asp566Val)
NM_001851.6(COL9A1):c.1719+3A>G
NM_001851.6(COL9A1):c.1720-3T>C
NM_001851.6(COL9A1):c.1723G>A (p.Val575Ile)
NM_001851.6(COL9A1):c.1724T>C (p.Val575Ala)
NM_001851.6(COL9A1):c.1730G>T (p.Gly577Val) rs1771075075
NM_001851.6(COL9A1):c.1751T>C (p.Val584Ala)
NM_001851.6(COL9A1):c.175C>A (p.Leu59Met) rs151310170
NM_001851.6(COL9A1):c.1760A>G (p.Glu587Gly) rs2127575414
NM_001851.6(COL9A1):c.1765G>A (p.Gly589Ser)
NM_001851.6(COL9A1):c.1771A>G (p.Thr591Ala) rs1348618819
NM_001851.6(COL9A1):c.1778C>G (p.Ala593Gly)
NM_001851.6(COL9A1):c.1788G>C (p.Lys596Asn)
NM_001851.6(COL9A1):c.1807T>A (p.Ser603Thr) rs1398491945
NM_001851.6(COL9A1):c.1808C>T (p.Ser603Leu) rs2127574590
NM_001851.6(COL9A1):c.1811G>A (p.Gly604Asp)
NM_001851.6(COL9A1):c.1812C>T (p.Gly604=)
NM_001851.6(COL9A1):c.1838G>A (p.Gly613Glu) rs886044124
NM_001851.6(COL9A1):c.1847G>C (p.Gly616Ala) rs1562303379
NM_001851.6(COL9A1):c.1859C>T (p.Pro620Leu)
NM_001851.6(COL9A1):c.1861_1862inv (p.Gln621Trp)
NM_001851.6(COL9A1):c.186G>C (p.Gln62His)
NM_001851.6(COL9A1):c.1898T>G (p.Val633Gly)
NM_001851.6(COL9A1):c.1904C>A (p.Ser635Tyr) rs2127566645
NM_001851.6(COL9A1):c.1925T>A (p.Leu642Gln) rs1357867750
NM_001851.6(COL9A1):c.1926+6T>C rs372289111
NM_001851.6(COL9A1):c.1942C>G (p.Pro648Ala)
NM_001851.6(COL9A1):c.1942C>T (p.Pro648Ser)
NM_001851.6(COL9A1):c.1948C>T (p.Leu650Phe) rs1269618884
NM_001851.6(COL9A1):c.1952C>A (p.Pro651His) rs139305174
NM_001851.6(COL9A1):c.1956_1964del (p.650LPG[1]) rs777456489
NM_001851.6(COL9A1):c.1963G>T (p.Gly655Trp) rs2127565874
NM_001851.6(COL9A1):c.1966C>A (p.Pro656Thr) rs773476642
NM_001851.6(COL9A1):c.1976T>G (p.Leu659Arg) rs1770287143
NM_001851.6(COL9A1):c.1997G>A (p.Arg666Lys) rs1425493186
NM_001851.6(COL9A1):c.1999-3C>T rs886061697
NM_001851.6(COL9A1):c.2002G>A (p.Val668Ile)
NM_001851.6(COL9A1):c.2015_2032del (p.Pro672_Glu677del) rs2127565324
NM_001851.6(COL9A1):c.2017G>A (p.Gly673Ser)
NM_001851.6(COL9A1):c.2035-6T>A rs1770205046
NM_001851.6(COL9A1):c.2036G>A (p.Gly679Asp) rs2127564614
NM_001851.6(COL9A1):c.2039C>G (p.Ala680Gly) rs1036563613
NM_001851.6(COL9A1):c.2039C>T (p.Ala680Val)
NM_001851.6(COL9A1):c.2059G>T (p.Ala687Ser)
NM_001851.6(COL9A1):c.2076A>G (p.Glu692=) rs557157592
NM_001851.6(COL9A1):c.2076A>T (p.Glu692Asp) rs557157592
NM_001851.6(COL9A1):c.2087T>C (p.Ile696Thr) rs1562295675
NM_001851.6(COL9A1):c.2088A>G (p.Ile696Met) rs1770101448
NM_001851.6(COL9A1):c.2112+4A>G
NM_001851.6(COL9A1):c.2112+8T>A rs766377239
NM_001851.6(COL9A1):c.2121T>A (p.Asn707Lys) rs1197989118
NM_001851.6(COL9A1):c.2132C>G (p.Pro711Arg) rs1032780767
NM_001851.6(COL9A1):c.2139G>C (p.Leu713Phe) rs886061696
NM_001851.6(COL9A1):c.2147C>T (p.Pro716Leu)
NM_001851.6(COL9A1):c.2159G>T (p.Arg720Leu) rs192467838
NM_001851.6(COL9A1):c.215G>A (p.Arg72Lys)
NM_001851.6(COL9A1):c.2162G>T (p.Gly721Val) rs774807480
NM_001851.6(COL9A1):c.2170G>A (p.Gly724Arg)
NM_001851.6(COL9A1):c.2174T>A (p.Val725Glu)
NM_001851.6(COL9A1):c.2174T>C (p.Val725Ala) rs1428416801
NM_001851.6(COL9A1):c.2177A>G (p.Glu726Gly)
NM_001851.6(COL9A1):c.2183C>G (p.Pro728Arg)
NM_001851.6(COL9A1):c.2183C>T (p.Pro728Leu) rs1029245584
NM_001851.6(COL9A1):c.2192C>T (p.Pro731Leu) rs1769801422
NM_001851.6(COL9A1):c.2193_2201del (p.Pro732_Pro734del) rs1769800333
NM_001851.6(COL9A1):c.2203C>G (p.Arg735Gly) rs148695653
NM_001851.6(COL9A1):c.2203C>T (p.Arg735Trp) rs148695653
NM_001851.6(COL9A1):c.2209G>T (p.Val737Leu) rs2127559780
NM_001851.6(COL9A1):c.2225G>A (p.Gly742Asp) rs1206093741
NM_001851.6(COL9A1):c.2225G>T (p.Gly742Val)
NM_001851.6(COL9A1):c.2233G>A (p.Gly745Ser)
NM_001851.6(COL9A1):c.2250G>T (p.Gln750His)
NM_001851.6(COL9A1):c.2255C>A (p.Pro752His)
NM_001851.6(COL9A1):c.226A>G (p.Arg76Gly) rs1774005110
NM_001851.6(COL9A1):c.227G>A (p.Arg76Lys)
NM_001851.6(COL9A1):c.2281C>T (p.His761Tyr)
NM_001851.6(COL9A1):c.2302A>G (p.Arg768Gly) rs1191443057
NM_001851.6(COL9A1):c.233T>A (p.Val78Glu)
NM_001851.6(COL9A1):c.2344A>G (p.Lys782Glu)
NM_001851.6(COL9A1):c.2347C>T (p.Arg783Cys) rs1268667358
NM_001851.6(COL9A1):c.2360G>T (p.Gly787Val)
NM_001851.6(COL9A1):c.2365A>T (p.Thr789Ser) rs373877078
NM_001851.6(COL9A1):c.2372T>C (p.Leu791Pro) rs1769631044
NM_001851.6(COL9A1):c.2395G>T (p.Gly799Cys) rs1769629894
NM_001851.6(COL9A1):c.2398C>A (p.Pro800Thr) rs527945609
NM_001851.6(COL9A1):c.2399C>T (p.Pro800Leu) rs775466585
NM_001851.6(COL9A1):c.2407C>T (p.Pro803Ser)
NM_001851.6(COL9A1):c.2439G>A (p.Met813Ile) rs747652928
NM_001851.6(COL9A1):c.2447G>A (p.Arg816His)
NM_001851.6(COL9A1):c.2453T>A (p.Leu818His) rs1438856749
NM_001851.6(COL9A1):c.2455C>T (p.Pro819Ser)
NM_001851.6(COL9A1):c.2489T>C (p.Leu830Ser)
NM_001851.6(COL9A1):c.2492G>A (p.Arg831Lys) rs764624908
NM_001851.6(COL9A1):c.2495G>T (p.Gly832Val)
NM_001851.6(COL9A1):c.249G>T (p.Leu83Phe)
NM_001851.6(COL9A1):c.251A>G (p.Gln84Arg)
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.2554G>C (p.Gly852Arg)
NM_001851.6(COL9A1):c.2558T>C (p.Leu853Ser) rs886702234
NM_001851.6(COL9A1):c.2561C>T (p.Pro854Leu) rs761742449
NM_001851.6(COL9A1):c.2572G>T (p.Gly858Cys) rs1769197490
NM_001851.6(COL9A1):c.2579C>G (p.Pro860Arg)
NM_001851.6(COL9A1):c.2581+5G>A
NM_001851.6(COL9A1):c.2581+6T>C
NM_001851.6(COL9A1):c.2593C>T (p.Pro865Ser) rs1203477719
NM_001851.6(COL9A1):c.2594C>T (p.Pro865Leu) rs2127544141
NM_001851.6(COL9A1):c.2596G>A (p.Ala866Thr)
NM_001851.6(COL9A1):c.2597C>A (p.Ala866Asp)
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.2617C>T (p.Arg873Ter)
NM_001851.6(COL9A1):c.2618G>A (p.Arg873Gln)
NM_001851.6(COL9A1):c.2618G>T (p.Arg873Leu) rs201520437
NM_001851.6(COL9A1):c.2623G>C (p.Gly875Arg)
NM_001851.6(COL9A1):c.2626G>A (p.Glu876Lys) rs2127544097
NM_001851.6(COL9A1):c.2626G>C (p.Glu876Gln) rs2127544097
NM_001851.6(COL9A1):c.2628G>T (p.Glu876Asp) rs1336291242
NM_001851.6(COL9A1):c.2630G>A (p.Arg877Gln) rs1408064118
NM_001851.6(COL9A1):c.2636C>A (p.Pro879His)
NM_001851.6(COL9A1):c.2655T>G (p.Ile885Met) rs2127544055
NM_001851.6(COL9A1):c.2671C>T (p.Pro891Ser) rs763970167
NM_001851.6(COL9A1):c.2684C>G (p.Pro895Arg)
NM_001851.6(COL9A1):c.2684C>T (p.Pro895Leu) rs758916884
NM_001851.6(COL9A1):c.2695G>A (p.Gly899Ser)
NM_001851.6(COL9A1):c.269G>A (p.Gly90Glu) rs2127608290
NM_001851.6(COL9A1):c.2702G>A (p.Cys901Tyr)
NM_001851.6(COL9A1):c.2724G>A (p.Met908Ile)
NM_001851.6(COL9A1):c.2761C>T (p.Pro921Ser) rs374561398
NM_001851.6(COL9A1):c.286A>G (p.Arg96Gly) rs375022897
NM_001851.6(COL9A1):c.298A>G (p.Arg100Gly)
NM_001851.6(COL9A1):c.300-19_300-4del rs1773783129
NM_001851.6(COL9A1):c.316G>C (p.Gly106Arg)
NM_001851.6(COL9A1):c.335C>T (p.Ser112Phe)
NM_001851.6(COL9A1):c.355A>T (p.Met119Leu)
NM_001851.6(COL9A1):c.36T>A (p.Phe12Leu)
NM_001851.6(COL9A1):c.380A>G (p.Asn127Ser) rs763327020
NM_001851.6(COL9A1):c.381C>A (p.Asn127Lys) rs373482218
NM_001851.6(COL9A1):c.382T>G (p.Trp128Gly)
NM_001851.6(COL9A1):c.38T>G (p.Val13Gly)
NM_001851.6(COL9A1):c.397A>T (p.Ile133Phe)
NM_001851.6(COL9A1):c.404A>C (p.Asp135Ala) rs1202257253
NM_001851.6(COL9A1):c.420G>C (p.Glu140Asp)
NM_001851.6(COL9A1):c.425T>C (p.Val142Ala) rs1773775158
NM_001851.6(COL9A1):c.437T>C (p.Ile146Thr)
NM_001851.6(COL9A1):c.468A>T (p.Ser156=)
NM_001851.6(COL9A1):c.494A>C (p.Gln165Pro) rs772666114
NM_001851.6(COL9A1):c.503C>T (p.Ala168Val) rs199822035
NM_001851.6(COL9A1):c.550A>G (p.Met184Val)
NM_001851.6(COL9A1):c.552G>A (p.Met184Ile) rs751324421
NM_001851.6(COL9A1):c.554T>C (p.Ile185Thr)
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.575C>T (p.Ala192Val) rs2127604996
NM_001851.6(COL9A1):c.580C>A (p.Leu194Ile) rs2127604991
NM_001851.6(COL9A1):c.583T>C (p.Phe195Leu)
NM_001851.6(COL9A1):c.586G>A (p.Val196Ile)
NM_001851.6(COL9A1):c.5_7del (p.Lys2del) rs1389297007
NM_001851.6(COL9A1):c.602T>C (p.Ile201Thr)
NM_001851.6(COL9A1):c.634A>G (p.Ile212Val)
NM_001851.6(COL9A1):c.643G>A (p.Asp215Asn)
NM_001851.6(COL9A1):c.647G>A (p.Gly216Asp)
NM_001851.6(COL9A1):c.64T>C (p.Ser22Pro) rs765061853
NM_001851.6(COL9A1):c.670G>A (p.Ala224Thr) rs2127604892
NM_001851.6(COL9A1):c.688T>C (p.Ser230Pro)
NM_001851.6(COL9A1):c.695C>T (p.Pro232Leu)
NM_001851.6(COL9A1):c.699T>G (p.Phe233Leu)
NM_001851.6(COL9A1):c.722A>T (p.His241Leu) rs1157440130
NM_001851.6(COL9A1):c.725G>A (p.Cys242Tyr)
NM_001851.6(COL9A1):c.729C>T (p.Asp243=) rs2127599903
NM_001851.6(COL9A1):c.736C>T (p.Arg246Trp) rs138557524
NM_001851.6(COL9A1):c.737G>A (p.Arg246Gln)
NM_001851.6(COL9A1):c.73G>C (p.Val25Leu) rs767995228
NM_001851.6(COL9A1):c.746G>C (p.Arg249Thr)
NM_001851.6(COL9A1):c.757C>A (p.His253Asn)
NM_001851.6(COL9A1):c.758A>G (p.His253Arg) rs747074497
NM_001851.6(COL9A1):c.773G>T (p.Arg258Ile)
NM_001851.6(COL9A1):c.77A>G (p.Lys26Arg) rs1774083146
NM_001851.6(COL9A1):c.781C>T (p.Pro261Ser)
NM_001851.6(COL9A1):c.793A>G (p.Thr265Ala) rs1773262366
NM_001851.6(COL9A1):c.79C>T (p.Arg27Cys) rs746534856
NM_001851.6(COL9A1):c.7A>T (p.Thr3Ser)
NM_001851.6(COL9A1):c.803G>A (p.Arg268Lys)
NM_001851.6(COL9A1):c.812C>A (p.Pro271Gln)
NM_001851.6(COL9A1):c.818A>G (p.Glu273Gly)
NM_001851.6(COL9A1):c.823G>C (p.Gly275Arg)
NM_001851.6(COL9A1):c.82C>A (p.Arg28Ser)
NM_001851.6(COL9A1):c.82C>T (p.Arg28Cys) rs745566207
NM_001851.6(COL9A1):c.832G>T (p.Gly278Trp) rs1224223702
NM_001851.6(COL9A1):c.835C>A (p.Pro279Thr)
NM_001851.6(COL9A1):c.839C>T (p.Pro280Leu)
NM_001851.6(COL9A1):c.841G>A (p.Gly281Ser)
NM_001851.6(COL9A1):c.842G>A (p.Gly281Asp)
NM_001851.6(COL9A1):c.842G>C (p.Gly281Ala)
NM_001851.6(COL9A1):c.847C>G (p.Pro283Ala) rs1038310229
NM_001851.6(COL9A1):c.85C>A (p.Pro29Thr)
NM_001851.6(COL9A1):c.862A>G (p.Ile288Val)
NM_001851.6(COL9A1):c.865G>A (p.Asp289Asn)
NM_001851.6(COL9A1):c.867_875dup (p.Gly293_Asp294insIleAspGly)
NM_001851.6(COL9A1):c.905G>A (p.Gly302Asp)
NM_001851.6(COL9A1):c.905G>C (p.Gly302Ala)
NM_001851.6(COL9A1):c.907C>G (p.Pro303Ala) rs759319053
NM_001851.6(COL9A1):c.914G>A (p.Gly305Asp) rs1335396298
NM_001851.6(COL9A1):c.925G>C (p.Glu309Gln)
NM_001851.6(COL9A1):c.929C>T (p.Pro310Leu) rs1159414513
NM_001851.6(COL9A1):c.943G>A (p.Ala315Thr) rs369114509
NM_001851.6(COL9A1):c.953_961del (p.Lys318_Gly320del) rs755136585
NM_001851.6(COL9A1):c.959G>A (p.Gly320Asp) rs187291813
NM_001851.6(COL9A1):c.970G>A (p.Ala324Thr)
NM_001851.6(COL9A1):c.970G>T (p.Ala324Ser) rs1286307073
NM_001851.6(COL9A1):c.975+8G>A rs2127597148
NM_001851.6(COL9A1):c.976-3T>G rs2127592930
NM_001851.6(COL9A1):c.994G>A (p.Gly332Arg)
NM_001851.6(COL9A1):c.998C>A (p.Ser333Tyr)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.