ClinVar Miner

List of variants in gene SBF2 reported as not provided for Charcot-Marie-Tooth disease type 4B2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala)	rs147350002	0.00006
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu)	rs767811228	0.00001

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