ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" and "uncertain risk allele"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain risk allele) minimum review status: Submission 2 (uncertain risk allele) method:
ClinVar version:

Total variants with conflicting interpretations: 5

HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.207A>G (p.Ser69=) rs779548342
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.863+3A>G rs193922334
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del) rs1280663753

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