ClinVar Miner

List of variants in gene SELENON reported as pathogenic for SELENON-related myopathy

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_020451.3(SELENON):c.943G>A (p.Gly315Ser)	rs121908188	0.00030
NM_020451.3(SELENON):c.746_747+36del	rs2047932848

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