List of variants in gene combination MYH2, MYHAS reported as likely pathogenic for Myopathy, proximal, and ophthalmoplegia

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala)	rs200662973	0.00034
NM_017534.6(MYH2):c.1008+1G>A	rs781504304	0.00002
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter)	rs780124402	0.00002
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys)	rs376357016	0.00002
NM_017534.6(MYH2):c.1975-1G>C	rs201082272	0.00001
NM_017534.6(MYH2):c.2063-2A>T	rs1349048266	0.00001
NM_017534.6(MYH2):c.5472+1G>A	rs758888662	0.00001
NM_017534.6(MYH2):c.1313del (p.Met438fs)
NM_017534.6(MYH2):c.1417-2_1417-1delinsCC	rs2073501817
NM_017534.6(MYH2):c.1897+1G>T
NM_017534.6(MYH2):c.2305-1G>A	rs2142305562
NM_017534.6(MYH2):c.3002del (p.Glu1001fs)	rs797045096
NM_017534.6(MYH2):c.4180G>T (p.Glu1394Ter)
NM_017534.6(MYH2):c.5473-2A>C	rs2142290339
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro)	rs2142289928
NM_017534.6(MYH2):c.5651A>C (p.Tyr1884Ser)
NM_017534.6(MYH2):c.5673+1G>C	rs1400481053

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