ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2 by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg) rs780878780
NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly) rs1266361856
NM_014874.3(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys) rs375292909
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535

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