ClinVar Miner

List of variants in gene RAB7A reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_004637.5(RAB7A):c.167T>C (p.Leu56Pro) rs775104487
NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe) rs121909078
NM_004637.5(RAB7A):c.471G>C (p.Lys157Asn) rs121909081
NM_004637.5(RAB7A):c.482A>C (p.Asn161Thr) rs121909080
NM_004637.5(RAB7A):c.482A>T (p.Asn161Ile)
NM_004637.5(RAB7A):c.484G>A (p.Val162Met) rs121909079

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