ClinVar Miner

List of variants reported as likely pathogenic for Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_018122.5(DARS2):c.761G>A (p.Gly254Asp)	rs746694330	0.00001
NM_018122.5(DARS2):c.452C>A (p.Ala151Asp)	rs2102639360

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