ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease recessive intermediate b

Included ClinVar conditions (1):
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Total variants: 5
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NM_005548.2(KARS1):c.223-6del rs370077957
NM_005548.2(KARS1):c.223-7_223-6del rs370077957
NM_005548.2(KARS1):c.314T>A (p.Leu105His) rs267607194
NM_005548.2(KARS1):c.430_431dup (p.Tyr145fs) rs587776688
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470

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