ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_006096.4(NDRG1):c.944-1G>T rs1588216753
NM_016077.4(PTRH2):c.254A>C (p.Gln85Pro) rs730882234
NM_016156.6(MTMR2):c.23_24AG[1] (p.Leu10fs) rs1591060788
NM_018972.4(GDAP1):c.917C>T (p.Pro306Leu) rs1586807529
NM_020680.4(SCYL1):c.1507T>C (p.Cys503Arg) rs374754187
NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter) rs1599651726

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