ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_014365.2(HSPB8):c.422A>T (p.Lys141Met) rs1565929090
NM_138361.5(LRSAM1):c.2093_2104del rs1554763017
NM_138361.5(LRSAM1):c.2104_2133dup (p.Pro702_Gln711dup) rs1564287871

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