List of variants in gene combination ASIC4, SPEG reported as pathogenic for Myopathy, centronuclear, 5

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_005876.5(SPEG):c.6618dup (p.Ala2207fs)
NM_005876.5(SPEG):c.6697C>T (p.Gln2233Ter)	rs587777672
NM_005876.5(SPEG):c.8270G>T (p.Gly2757Val)	rs587777676
NM_005876.5(SPEG):c.8839C>T (p.Arg2947Ter)	rs768300296
NM_005876.5(SPEG):c.8872C>T (p.Arg2958Ter)
NM_005876.5(SPEG):c.8965_8989dup (p.Val2997fs)	rs1575201712

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