ClinVar Miner

List of variants in gene SPTBN1 reported as uncertain significance for Neurodevelopmental disorder

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_003128.3(SPTBN1):c.646C>T (p.Arg216Trp)	rs1677695509	0.00001
NM_003128.3(SPTBN1):c.2887G>A (p.Glu963Lys)	rs2103937586

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