List of variants in gene combination BVES, POPDC3 reported as pathogenic for hereditary skeletal muscle disorder

Minimum submission review status:		Collection method:
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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_022361.5(POPDC3):c.782G>A (p.Arg261Gln)	rs1437210856	0.00002
NM_022361.5(POPDC3):c.464T>A (p.Leu155His)	rs1311819000	0.00001
NM_022361.5(POPDC3):c.460A>G (p.Lys154Glu)
NM_022361.5(POPDC3):c.486-1G>A	rs113419658
NM_022361.5(POPDC3):c.486-6T>A
NM_022361.5(POPDC3):c.651A>T (p.Leu217Phe)	rs1054547392

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