ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Dan Cohn Lab, University Of California Los Angeles and "likely pathogenic" from any submitter

Minimum review status of the submission from Dan Cohn Lab, University Of California Los Angeles: Collection method of the submission from Dan Cohn Lab, University Of California Los Angeles:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
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_025103.4(IFT74):c.120+2dup rs551515830 0.00048
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.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00006
NM_001377.3(DYNC2H1):c.740G>A (p.Arg247Gln) rs761391585 0.00004
NM_015693.4(INTU):c.1288C>T (p.Arg430Cys) rs1227833863 0.00002
NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp) rs992324423 0.00001
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu) rs770569272 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_001102564.3(IFT43):c.8A>G (p.Asp3Gly) rs144776609
NM_001377.3(DYNC2H1):c.3847G>C (p.Asp1283His) rs1555050986
NM_006531.5(IFT88):c.2087G>C (p.Arg696Pro) rs373832683
NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys) rs76483206
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105

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