ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease by Institute of Human Genetics,Cologne University

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034
NM_000902.4(MME):c.769C>A (p.Arg257Ser) rs145687755
NM_001365088.1(SLC12A6):c.1970del (p.Val657fs) rs1555378419
NM_014629.4(ARHGEF10):c.133C>T (p.Gln45Ter) rs1467438651
NM_014629.4(ARHGEF10):c.1720G>A (p.Glu574Lys) rs1437730951
NM_018706.7(DHTKD1):c.2744C>T (p.Ala915Val) rs756509201
NM_021625.4(TRPV4):c.1445T>C (p.Met482Thr) rs1565866454

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