ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2X by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys) rs201082396
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn) rs771242219
NM_025137.4(SPG11):c.604A>G (p.Met202Val) rs201875705
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) rs374057859

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