List of variants in gene PAX7 reported as pathogenic for hereditary skeletal muscle disorder

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)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001135254.2(PAX7):c.166C>T (p.Arg56Cys)	rs1392068839	0.00001
NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter)	rs1176071790
NM_001135254.2(PAX7):c.433C>T (p.Arg145Ter)	rs752326328
NM_001135254.2(PAX7):c.86-1G>A	rs1570098248

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