ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) rs863225027
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg) rs1060503423
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) rs754068936
NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_006158.4(NEFL):c.837G>A (p.Trp279Ter) rs1586128169
Single allele

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