ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from University of Washington Center for Mendelian Genomics, University of Washington and "uncertain significance" from any submitter

Minimum review status of the submission from University of Washington Center for Mendelian Genomics, University of Washington: Collection method of the submission from University of Washington Center for Mendelian Genomics, University of Washington:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 71
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HGVS dbSNP gnomAD frequency
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis) rs566116760 0.00167
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) rs145404396 0.00140
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser) rs149108037 0.00051
NM_025103.4(IFT74):c.120+2dup rs551515830 0.00048
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802 0.00041
NM_015693.4(INTU):c.1628G>A (p.Arg543His) rs34027211 0.00029
NM_016004.5(IFT52):c.931G>A (p.Glu311Lys) rs145672738 0.00024
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00016
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_001278716.2(FBXL4):c.1126G>A (p.Glu376Lys) rs745512025 0.00010
NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys) rs183911558 0.00009
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) rs281875318 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His) rs770380730 0.00006
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00006
NM_001085458.2(CTNND1):c.55C>G (p.Gln19Glu) rs567875341 0.00004
NM_001273.5(CHD4):c.5273A>G (p.Tyr1758Cys) rs777021265 0.00004
NM_001377.3(DYNC2H1):c.740G>A (p.Arg247Gln) rs761391585 0.00004
NM_005560.6(LAMA5):c.6148C>T (p.Arg2050Cys) rs377244239 0.00004
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571 0.00004
NM_032656.4(DHX37):c.278G>A (p.Arg93Gln) rs575837056 0.00004
NM_001085458.2(CTNND1):c.1672C>T (p.Leu558Phe) rs775782206 0.00003
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391 0.00003
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
NM_001273.5(CHD4):c.1481C>T (p.Thr494Met) rs375234607 0.00002
NM_005560.6(LAMA5):c.7975C>T (p.Arg2659Trp) rs201012962 0.00002
NM_015693.4(INTU):c.1288C>T (p.Arg430Cys) rs1227833863 0.00002
NM_001145678.3(KIAA0825):c.2173A>T (p.Lys725Ter) rs956457873 0.00001
NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp) rs992324423 0.00001
NM_001287491.2(TET3):c.5030C>T (p.Pro1677Leu) rs1691236972 0.00001
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu) rs770569272 0.00001
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728 0.00001
NM_013432.5(TONSL):c.1958C>T (p.Thr653Met) rs755055463 0.00001
NM_013432.5(TONSL):c.595G>A (p.Glu199Lys) rs1335783881 0.00001
NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys) rs759662469 0.00001
NM_025129.5(FUZ):c.851G>T (p.Arg284Leu) rs368721486 0.00001
NM_052844.4(DYNC2I2):c.544C>T (p.Arg182Trp) rs555811074 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_173477.5(USH1G):c.1093G>A (p.Asp365Asn) rs538983393 0.00001
NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr) rs763320093 0.00001
NM_001102564.3(IFT43):c.8A>G (p.Asp3Gly) rs144776609
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp) rs368448387
NM_001363711.2(DUOX2):c.1946C>A (p.Ala649Glu) rs748793969
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001377.3(DYNC2H1):c.3847G>C (p.Asp1283His) rs1555050986
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val) rs963717773
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp) rs1555057881
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys) rs199984052
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter) rs1933302820
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter) rs1601319501
NM_006531.5(IFT88):c.2087G>C (p.Arg696Pro) rs373832683
NM_013432.5(TONSL):c.1837G>T (p.Val613Leu) rs778625348
NM_013432.5(TONSL):c.329G>A (p.Trp110Ter) rs1002531030
NM_013432.5(TONSL):c.866-1G>C rs1424148372
NM_015949.3(GET4):c.837A>G (p.Ile279Met) rs1844404490
NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys) rs76483206
NM_020338.4(ZMIZ1):c.859G>A (p.Ala287Thr) rs1472883107
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_152707.4(SLC25A16):c.92G>T (p.Arg31Leu) rs771745123
Single allele

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