ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4B3 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_002972.4(SBF1):c.1249A>G (p.Met417Val) rs587776986
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568

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