ClinVar Miner

Variants in gene PMP22 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000304.4(PMP22):c.-141C>G rs560442424 0.00204
NM_000304.4(PMP22):c.320-4C>T rs377467465 0.00024
NM_000304.4(PMP22):c.327C>T (p.Cys109=) rs863225028 0.00001

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