ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Ocular Genomics Institute, Massachusetts Eye and Ear and "uncertain significance" from any submitter

Minimum review status of the submission from Ocular Genomics Institute, Massachusetts Eye and Ear: Collection method of the submission from Ocular Genomics Institute, Massachusetts Eye and Ear:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe) rs550485638 0.00005
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys) rs75939033 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_014336.5(AIPL1):c.190G>A (p.Gly64Arg) rs776024427 0.00003
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr) rs765327224 0.00001
NM_004928.3(CFAP410):c.143+3A>T
NM_006531.5(IFT88):c.1082dup (p.Asn361fs) rs1594100988
NM_015629.4(PRPF31):c.1146+2T>G rs2073971890
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu) rs778481181
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly) rs1594865341

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