ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2 by Biochimie - Maladies Neurologiques Hereditaires, Hospices Civils de Lyon

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001005373.4(LRSAM1):c.2093_2104del (p.Gln698_Gln701del) rs1554763017
NM_001005373.4(LRSAM1):c.2104_2133dup (p.Pro702_Gln711dup) rs1564287871
NM_014365.3(HSPB8):c.422A>T (p.Lys141Met) rs1565929090

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