ClinVar Miner

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

Included ClinVar conditions (127):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_000304.3(PMP22):c.449G>T (p.Gly150Val) rs879253954
NM_001376.5(DYNC1H1):c.4370T>C (p.Met1457Thr)
NM_024577.3(SH3TC2):c.3675+2dup rs1554120215
NM_181882.2(PRX):c.1012delG (p.Ala338Profs) rs1555801290

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