ClinVar Miner

List of variants in gene CTDP1 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (135):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_004715.4(CTDP1):c.1461G>A (p.Pro487=) rs2126082
NM_004715.4(CTDP1):c.2817T>C (p.Asp939=) rs626169
NM_004715.4(CTDP1):c.863+389C>T rs113994102
NM_004715.4(CTDP1):c.978G>A (p.Thr326=) rs599554
NM_004715.5(CTDP1):c.2418-207_2418-165dup rs147933855

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