ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2Q by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu) rs556384043 0.00001
NM_018706.7(DHTKD1):c.2144G>A (p.Arg715His)
NM_018706.7(DHTKD1):c.63G>T (p.Trp21Cys)

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