ClinVar Miner

List of variants in gene LOC129390655, SEL1L studied for Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_005065.6(SEL1L):c.422G>A (p.Cys141Tyr)

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