List of variants in gene PYROXD1 reported as pathogenic for hereditary skeletal muscle disorder

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_024854.5(PYROXD1):c.285+1G>A	rs369083786	0.00009
NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser)	rs781565158	0.00002
NM_024854.5(PYROXD1):c.1116G>C (p.Gln372His)	rs755208949	0.00001
NM_024854.5(PYROXD1):c.1061A>G (p.Tyr354Cys)
NM_024854.5(PYROXD1):c.1160_1163dup (p.Lys388fs)	rs1057518755
NM_024854.5(PYROXD1):c.334_337del (p.Leu112fs)
NM_024854.5(PYROXD1):c.414+1G>A	rs1057518754

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