List of variants in gene combination LOC126861898, MYH7 reported as uncertain significance for congenital myopathy

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.2334C>T (p.Asp778=)	rs2069544	0.00035
NM_000257.4(MYH7):c.2526T>C (p.Ser842=)	rs554560162	0.00013
NM_000257.4(MYH7):c.2508C>G (p.Ile836Met)	rs772442923	0.00001
NM_000257.4(MYH7):c.2556G>A (p.Met852Ile)	rs1343088568	0.00001
NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile)	rs397516158	0.00001
NM_000257.4(MYH7):c.2677G>A (p.Ala893Thr)	rs750204313	0.00001
NM_000257.4(MYH7):c.2335G>A (p.Glu779Lys)	rs1427104281
NM_000257.4(MYH7):c.2424-7C>T	rs759141144
NM_000257.4(MYH7):c.2551T>A (p.Ser851Thr)	rs2138665874
NM_000257.4(MYH7):c.2582A>G (p.Glu861Gly)	rs1236517740

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