List of variants reported as pathogenic by Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_005005.3(NDUFB9):c.431C>T (p.Thr144Met)	rs769883777	0.00014
NM_001382273.1(TNK2):c.1054C>T (p.Arg352Trp)	rs1418694748	0.00001
NM_000487.6(ARSA):c.607T>C (p.Tyr203His)	rs2082680103
NM_004092.4(ECHS1):c.467A>G (p.Glu156Gly)	rs1849069405
NM_024884.3(L2HGDH):c.140+726del	rs2139242065

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