ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val) rs1404020990
NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly) rs1266361856
NM_014874.3(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014874.3(MFN2):c.334G>A (p.Val112Met) rs757937208
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val) rs1554969894

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