ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease type 1A

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) rs863225027
NM_000304.4(PMP22):c.341C>T (p.Ala114Val) rs1217342392
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627

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