ClinVar Miner

Variants with conflicting interpretations "pathogenic" from UW Hindbrain Malformation Research Program, University of Washington and "likely pathogenic" from University of Washington Center for Mendelian Genomics, University of Washington

Minimum review status of the submission from UW Hindbrain Malformation Research Program, University of Washington: Collection method of the submission from UW Hindbrain Malformation Research Program, University of Washington:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro) rs150433582 0.00004
NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp) rs370676288 0.00002
NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter) rs1885329722
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp) rs368448387
NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter) rs1463041654
NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys) rs759684383
NM_001308120.2(TOGARAM1):c.5182C>T (p.Arg1728Ter) rs745704336

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