ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by Institute of Human Genetics,University of Goettingen

Included ClinVar conditions (135):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000304.4(PMP22):c.449G>T (p.Gly150Val) rs879253954
NM_001376.5(DYNC1H1):c.4370T>C (p.Met1457Thr) rs1567006359
NM_020956.2(PRX):c.*1217del rs1555801290
NM_021076.4(NEFH):c.883+1G>C rs1602961831
NM_024577.3(SH3TC2):c.3675+2dup rs1554120215

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