ClinVar Miner

Variants in gene IVD 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: 9
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HGVS dbSNP
NM_002225.3(IVD):c.1188delT (p.Leu397Phefs) rs786204613
NM_002225.3(IVD):c.157C>T (p.Arg53Cys) rs34695403
NM_002225.3(IVD):c.367G>A (p.Gly123Arg) rs142761835
NM_002225.4(IVD):c.149G>A (p.Arg50His) rs2229311
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.232C>T (p.Arg78Ter) rs765815516
NM_002225.5(IVD):c.397_398del (p.Cys133fs) rs398123682
NM_002225.5(IVD):c.785-1G>A rs1555404784

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