List of variants in gene combination LOC130065433, NDUFAF5 reported as uncertain significance for congenital structural myopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_024120.5(NDUFAF5):c.178G>A (p.Ala60Thr)	rs146837138	0.00036
NM_024120.5(NDUFAF5):c.135T>A (p.Asn45Lys)	rs1980757406
NM_024120.5(NDUFAF5):c.176C>A (p.Ala59Glu)	rs1980770637

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