ClinVar Miner

List of variants reported as uncertain significance for coloboma by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_001001557.4(GDF6):c.574C>T (p.Leu192Phe) rs565877093 0.00019
NM_001001557.4(GDF6):c.878T>C (p.Met293Thr) rs762304422 0.00014
NM_001001557.4(GDF6):c.169G>C (p.Asp57His) rs397514725 0.00006
NM_001001557.4(GDF6):c.1322A>G (p.Tyr441Cys) rs752600101 0.00005
NM_001001557.4(GDF6):c.595G>A (p.Ala199Thr) rs387906794 0.00005
NM_001001557.4(GDF6):c.115T>C (p.Ser39Pro) rs749337343 0.00004
NM_001001557.4(GDF6):c.1282A>G (p.Ile428Val) rs144578143 0.00004
NM_001001557.4(GDF6):c.167G>C (p.Arg56Pro) rs375108591 0.00004
NM_001001557.4(GDF6):c.40A>G (p.Ile14Val) rs773668867 0.00004
NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly) rs886043381 0.00004
NM_001001557.4(GDF6):c.857G>A (p.Arg286His) rs764553577 0.00004
NM_001001557.4(GDF6):c.418C>G (p.His140Asp) rs370351474 0.00003
NM_001001557.4(GDF6):c.544G>C (p.Gly182Arg) rs767572263 0.00003
NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu) rs886063208 0.00003
NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn) rs747899927 0.00003
NM_001001557.4(GDF6):c.809G>A (p.Arg270Gln) rs781155701 0.00003
NM_001001557.4(GDF6):c.253C>T (p.Pro85Ser) rs766458579 0.00002
NM_001001557.4(GDF6):c.703G>A (p.Ala235Thr) rs1262253139 0.00002
NM_001001557.4(GDF6):c.728G>T (p.Gly243Val) rs772188117 0.00002
NM_001001557.4(GDF6):c.964G>A (p.Ala322Thr) rs200317462 0.00002
NM_001001557.4(GDF6):c.1106A>G (p.Asp369Gly) rs774573217 0.00001
NM_001001557.4(GDF6):c.1237G>A (p.Gly413Ser) rs984197099 0.00001
NM_001001557.4(GDF6):c.1310A>G (p.Asn437Ser) rs376427985 0.00001
NM_001001557.4(GDF6):c.223C>T (p.Pro75Ser) rs1040541530 0.00001
NM_001001557.4(GDF6):c.224C>G (p.Pro75Arg) rs1378920942 0.00001
NM_001001557.4(GDF6):c.305A>G (p.Tyr102Cys) rs1204502085 0.00001
NM_001001557.4(GDF6):c.401G>A (p.Gly134Glu) rs966679733 0.00001
NM_001001557.4(GDF6):c.416C>T (p.Ser139Leu) rs1812463539 0.00001
NM_001001557.4(GDF6):c.554A>C (p.His185Pro) rs763275206 0.00001
NM_001001557.4(GDF6):c.647A>G (p.Asp216Gly) rs1812457627 0.00001
NM_001001557.4(GDF6):c.743G>T (p.Arg248Leu) rs765707228 0.00001
NM_001001557.4(GDF6):c.764C>T (p.Pro255Leu) rs762654952 0.00001
NM_001001557.4(GDF6):c.82A>C (p.Ile28Leu) rs760516509 0.00001
NM_001001557.4(GDF6):c.896C>T (p.Ser299Leu) rs761634996 0.00001
NM_001001557.4(GDF6):c.954C>T (p.Gly318=) rs1277401260 0.00001
NC_000008.10:g.(?_96037237)_(97345794_?)dup
NM_001001557.4(GDF6):c.1001G>A (p.Arg334Gln)
NM_001001557.4(GDF6):c.1002_1003delinsAG (p.Arg335Gly) rs1812445134
NM_001001557.4(GDF6):c.100T>C (p.Ser34Pro) rs2130238372
NM_001001557.4(GDF6):c.1012T>C (p.Phe338Leu)
NM_001001557.4(GDF6):c.1022G>A (p.Arg341His) rs764936321
NM_001001557.4(GDF6):c.1025A>G (p.His342Arg)
NM_001001557.4(GDF6):c.106G>A (p.Glu36Lys)
NM_001001557.4(GDF6):c.1080C>A (p.His360Gln) rs1812443639
NM_001001557.4(GDF6):c.1081G>A (p.Val361Met) rs771878776
NM_001001557.4(GDF6):c.1094A>C (p.Glu365Ala)
NM_001001557.4(GDF6):c.1099G>A (p.Gly367Ser) rs745989382
NM_001001557.4(GDF6):c.10C>T (p.Pro4Ser) rs1812746374
NM_001001557.4(GDF6):c.1144C>T (p.His382Tyr) rs2130205366
NM_001001557.4(GDF6):c.1145A>T (p.His382Leu)
NM_001001557.4(GDF6):c.1178C>T (p.Ser393Leu) rs926947319
NM_001001557.4(GDF6):c.119C>T (p.Thr40Ile)
NM_001001557.4(GDF6):c.1214C>T (p.Thr405Met)
NM_001001557.4(GDF6):c.1229T>G (p.Met410Arg) rs1812440547
NM_001001557.4(GDF6):c.122A>G (p.Lys41Arg)
NM_001001557.4(GDF6):c.1244C>T (p.Thr415Ile) rs1269055850
NM_001001557.4(GDF6):c.1268C>T (p.Thr423Ile) rs769886732
NM_001001557.4(GDF6):c.1306G>A (p.Gly436Ser) rs1352200590
NM_001001557.4(GDF6):c.131_132delinsTT (p.Arg44Leu)
NM_001001557.4(GDF6):c.1333G>C (p.Glu445Gln) rs1331641099
NM_001001557.4(GDF6):c.1357G>A (p.Gly453Ser) rs1178158158
NM_001001557.4(GDF6):c.136C>T (p.Arg46Cys)
NM_001001557.4(GDF6):c.158G>A (p.Arg53Gln)
NM_001001557.4(GDF6):c.184C>T (p.Arg62Trp)
NM_001001557.4(GDF6):c.209G>A (p.Arg70Gln)
NM_001001557.4(GDF6):c.212C>T (p.Pro71Leu)
NM_001001557.4(GDF6):c.219C>A (p.Asp73Glu)
NM_001001557.4(GDF6):c.223C>A (p.Pro75Thr) rs1040541530
NM_001001557.4(GDF6):c.227G>A (p.Arg76Gln)
NM_001001557.4(GDF6):c.229G>C (p.Ala77Pro)
NM_001001557.4(GDF6):c.239C>T (p.Pro80Leu) rs2130237859
NM_001001557.4(GDF6):c.245C>A (p.Ala82Glu)
NM_001001557.4(GDF6):c.251A>G (p.Glu84Gly)
NM_001001557.4(GDF6):c.268C>T (p.Pro90Ser)
NM_001001557.4(GDF6):c.26C>T (p.Ser9Leu)
NM_001001557.4(GDF6):c.272G>C (p.Arg91Pro) rs768741148
NM_001001557.4(GDF6):c.283C>T (p.His95Tyr) rs2130237638
NM_001001557.4(GDF6):c.286G>C (p.Glu96Gln)
NM_001001557.4(GDF6):c.298T>C (p.Ser100Pro) rs2130237604
NM_001001557.4(GDF6):c.301A>G (p.Ile101Val)
NM_001001557.4(GDF6):c.316T>A (p.Ser106Thr) rs751465124
NM_001001557.4(GDF6):c.31G>A (p.Val11Ile) rs1812745847
NM_001001557.4(GDF6):c.323C>A (p.Ala108Asp) rs1812739209
NM_001001557.4(GDF6):c.332T>G (p.Leu111Arg)
NM_001001557.4(GDF6):c.348C>G (p.Ser116Arg)
NM_001001557.4(GDF6):c.362C>T (p.Ser121Phe) rs772435568
NM_001001557.4(GDF6):c.365A>C (p.Lys122Thr) rs2130237421
NM_001001557.4(GDF6):c.377C>T (p.Thr126Met) rs536331514
NM_001001557.4(GDF6):c.413T>C (p.Leu138Pro) rs2130208544
NM_001001557.4(GDF6):c.428T>C (p.Leu143Pro) rs1812463179
NM_001001557.4(GDF6):c.449T>C (p.Phe150Ser)
NM_001001557.4(GDF6):c.454G>A (p.Val152Met)
NM_001001557.4(GDF6):c.457T>C (p.Ser153Pro) rs1470026888
NM_001001557.4(GDF6):c.457_458delinsAA (p.Ser153Asn) rs2130208395
NM_001001557.4(GDF6):c.460A>C (p.Met154Leu) rs766667262
NM_001001557.4(GDF6):c.460A>G (p.Met154Val) rs766667262
NM_001001557.4(GDF6):c.461T>C (p.Met154Thr)
NM_001001557.4(GDF6):c.481C>G (p.Leu161Val) rs958381615
NM_001001557.4(GDF6):c.535C>A (p.Pro179Thr)
NM_001001557.4(GDF6):c.544G>A (p.Gly182Arg)
NM_001001557.4(GDF6):c.581C>A (p.Pro194His)
NM_001001557.4(GDF6):c.5A>G (p.Asp2Gly)
NM_001001557.4(GDF6):c.607G>T (p.Asp203Tyr)
NM_001001557.4(GDF6):c.60G>T (p.Leu20Phe)
NM_001001557.4(GDF6):c.611C>A (p.Pro204Gln)
NM_001001557.4(GDF6):c.611C>T (p.Pro204Leu) rs999492360
NM_001001557.4(GDF6):c.616G>A (p.Gly206Arg)
NM_001001557.4(GDF6):c.616G>C (p.Gly206Arg)
NM_001001557.4(GDF6):c.619G>A (p.Ala207Thr) rs2130207705
NM_001001557.4(GDF6):c.623C>T (p.Pro208Leu) rs903826881
NM_001001557.4(GDF6):c.625C>T (p.Pro209Ser)
NM_001001557.4(GDF6):c.631G>A (p.Gly211Ser) rs552234954
NM_001001557.4(GDF6):c.631G>C (p.Gly211Arg)
NM_001001557.4(GDF6):c.643T>C (p.Phe215Leu) rs2130207617
NM_001001557.4(GDF6):c.682C>T (p.Gln228Ter)
NM_001001557.4(GDF6):c.684G>C (p.Gln228His) rs1006833447
NM_001001557.4(GDF6):c.706G>T (p.Ala236Ser) rs933957352
NM_001001557.4(GDF6):c.707C>T (p.Ala236Val) rs781041300
NM_001001557.4(GDF6):c.715G>A (p.Glu239Lys)
NM_001001557.4(GDF6):c.719T>C (p.Leu240Pro)
NM_001001557.4(GDF6):c.724G>C (p.Ala242Pro)
NM_001001557.4(GDF6):c.725C>T (p.Ala242Val)
NM_001001557.4(GDF6):c.732G>C (p.Glu244Asp)
NM_001001557.4(GDF6):c.733G>A (p.Ala245Thr)
NM_001001557.4(GDF6):c.740C>A (p.Ala247Glu) rs1228278989
NM_001001557.4(GDF6):c.741_742delinsAA (p.Arg248Ser) rs2130207135
NM_001001557.4(GDF6):c.742C>T (p.Arg248Cys) rs750809706
NM_001001557.4(GDF6):c.749G>C (p.Arg250Pro)
NM_001001557.4(GDF6):c.755C>G (p.Pro252Arg)
NM_001001557.4(GDF6):c.758A>G (p.Gln253Arg) rs121909355
NM_001001557.4(GDF6):c.758A>T (p.Gln253Leu) rs121909355
NM_001001557.4(GDF6):c.764C>A (p.Pro255Gln)
NM_001001557.4(GDF6):c.767C>T (p.Pro256Leu)
NM_001001557.4(GDF6):c.769C>T (p.Pro257Ser)
NM_001001557.4(GDF6):c.76G>C (p.Ala26Pro)
NM_001001557.4(GDF6):c.773C>G (p.Pro258Arg)
NM_001001557.4(GDF6):c.808C>T (p.Arg270Trp) rs866273025
NM_001001557.4(GDF6):c.818A>G (p.Gln273Arg)
NM_001001557.4(GDF6):c.827C>G (p.Ala276Gly)
NM_001001557.4(GDF6):c.83T>C (p.Ile28Thr) rs2130238399
NM_001001557.4(GDF6):c.845C>G (p.Thr282Ser)
NM_001001557.4(GDF6):c.854A>T (p.Gln285Leu) rs757715384
NM_001001557.4(GDF6):c.855G>C (p.Gln285His)
NM_001001557.4(GDF6):c.856C>T (p.Arg286Cys) rs1303995573
NM_001001557.4(GDF6):c.870C>A (p.Phe290Leu) rs765928590
NM_001001557.4(GDF6):c.880C>G (p.Arg294Gly)
NM_001001557.4(GDF6):c.881G>A (p.Arg294His) rs2130206472
NM_001001557.4(GDF6):c.883G>A (p.Glu295Lys) rs1451309614
NM_001001557.4(GDF6):c.914C>A (p.Pro305Gln)
NM_001001557.4(GDF6):c.920C>T (p.Ala307Val)
NM_001001557.4(GDF6):c.931G>A (p.Gly311Arg) rs1812447441
NM_001001557.4(GDF6):c.932G>A (p.Gly311Glu)
NM_001001557.4(GDF6):c.946C>A (p.Pro316Thr)
NM_001001557.4(GDF6):c.950C>G (p.Ser317Trp)
NM_001001557.4(GDF6):c.950C>T (p.Ser317Leu)
NM_001001557.4(GDF6):c.958C>G (p.Pro320Ala)
NM_001001557.4(GDF6):c.962A>G (p.Asp321Gly) rs376698111
NM_001001557.4(GDF6):c.995G>A (p.Arg332Gln)
NM_001001557.4(GDF6):c.996GCG[4] (p.Arg335dup) rs762461479

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