ClinVar Miner

Variants in gene JAG1 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.100C>T (p.Gln34Ter) rs1555830976
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000214.3(JAG1):c.1395+3A>G rs886044220
NM_000214.3(JAG1):c.1657del (p.Glu553fs)
NM_000214.3(JAG1):c.2682+1G>T rs1568792238
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr) rs121918353

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