ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Laboratory of Human Genetics, Universidade de São Paulo and "likely pathogenic" from any submitter

Minimum review status of the submission from Laboratory of Human Genetics, Universidade de São Paulo: Collection method of the submission from Laboratory of Human Genetics, Universidade de São Paulo:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_000266.4(NDP):c.109C>T (p.Arg37Ter) rs398123283
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_001029896.2(WDR45):c.397C>T (p.Arg133Ter) rs797046101
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys) rs1555951993
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter) rs1555981717
NM_001371928.1(AHDC1):c.994C>T (p.Gln332Ter) rs1571242220
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser) rs1601071085

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