List of variants in gene combination MYOT, PKD2L2-DT reported as likely 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe)	rs121908461
NM_006790.3(MYOT):c.145_149del (p.Glu49fs)
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe)	rs121908457
NM_006790.3(MYOT):c.634C>T (p.Gln212Ter)

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