ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 4B2 by Revvity Omics, Revvity

Included ClinVar conditions (1):

Charcot-Marie-Tooth disease type 4B2

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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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.3888G>A (p.Ser1296=)	rs375669985

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