ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Pediatric Genetics Clinic, Sheba Medical Center and "pathogenic" from any submitter

Minimum review status of the submission from Pediatric Genetics Clinic, Sheba Medical Center: Collection method of the submission from Pediatric Genetics Clinic, Sheba Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001349338.3(FOXP1):c.1652+5G>A rs794727216
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_152654.3(DAND5):c.396_397dup (p.Tyr133fs) rs768842269
NM_181426.2(CCDC39):c.1871_1872del (p.Ile624fs) rs1560086701

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