ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (134):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001015509.2(PTRH2):c.257A>C (p.Gln86Pro) rs730882234
NM_006096.4(NDRG1):c.944-1G>T
NM_016156.6(MTMR2):c.23_24AG[1] (p.Leu10fs)
NM_018972.4(GDAP1):c.917C>T (p.Pro306Leu)
NM_020680.4(SCYL1):c.1507T>C (p.Cys503Arg)
NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter)

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