ClinVar Miner

Variants in gene PMM2 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760

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