ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_020680.4(SCYL1):c.526A>T (p.Lys176Ter) rs535912271
NM_130836.3(OPA1):c.556+1G>A rs1577162868

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