ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 4B2 by Revvity Omics, Revvity

Included ClinVar conditions (1):

Charcot-Marie-Tooth disease type 4B2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_030962.4(SBF2):c.1519G>A (p.Glu507Lys)	rs139217120	0.00029
NM_030962.4(SBF2):c.4515G>A (p.Val1505=)	rs144935862	0.00025
NM_030962.4(SBF2):c.2055T>G (p.Tyr685Ter)	rs2134006623
NM_030962.4(SBF2):c.3888G>A (p.Ser1296=)	rs375669985

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