ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease type 4K

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_003172.4(SURF1):c.107-2A>G rs782726390
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp) rs782190413
NM_003172.4(SURF1):c.797_798CT[1] (p.Leu267fs) rs864309500
NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs) rs782316919

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