List of variants in gene HACD1 reported as 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_014241.4(HACD1):c.355C>T (p.Gln119Ter)
NM_014241.4(HACD1):c.373_375+2del	rs1426156076
NM_014241.4(HACD1):c.458G>A (p.Trp153Ter)
NM_014241.4(HACD1):c.744C>A (p.Tyr248Ter)	rs606231257
NM_014241.4(HACD1):c.785-1G>T
NM_014241.4:c.739_740delinsN[1250]

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