List of variants in gene ALG2 reported as pathogenic for congenital myasthenic syndrome with tubular aggregates

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_033087.4(ALG2):c.203T>G (p.Val68Gly)	rs730882051
NM_033087.4(ALG2):c.214_224delinsAGTCCCCG (p.Gly72_Leu75delinsSerProArg)	rs730882123
NM_033087.4(ALG2):c.215_225del (p.Gly72fs)	rs1828806340

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