ClinVar Miner

List of variants in gene PMP2 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_002677.5(PMP2):c.128T>A (p.Ile43Asn) rs879253869
NM_002677.5(PMP2):c.151A>C (p.Thr51Pro) rs1563518390
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388

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