List of variants in gene DARS2 reported as likely pathogenic for Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_018122.5(DARS2):c.396+2T>G	rs759123043	0.00006
NM_018122.5(DARS2):c.536G>A (p.Arg179His)	rs121918210	0.00004
NM_018122.5(DARS2):c.172C>G (p.Arg58Gly)	rs375700548	0.00003
NM_018122.5(DARS2):c.259G>A (p.Asp87Asn)	rs1209550754	0.00001
NM_018122.5(DARS2):c.493-1G>C	rs771905691	0.00001
NM_018122.5(DARS2):c.562C>T (p.Arg188Ter)	rs751929342	0.00001
NM_018122.5(DARS2):c.563G>A (p.Arg188Gln)	rs182811621	0.00001
NM_018122.5(DARS2):c.761G>A (p.Gly254Asp)	rs746694330	0.00001
NM_018122.5(DARS2):c.128-1G>T	rs267598175
NM_018122.5(DARS2):c.1441G>A (p.Val481Met)
NM_018122.5(DARS2):c.1456C>G (p.Leu486Val)
NM_018122.5(DARS2):c.1702C>T (p.Leu568Phe)
NM_018122.5(DARS2):c.1762C>G (p.Leu588Val)	rs972404343
NM_018122.5(DARS2):c.228-17C>G	rs754752982
NM_018122.5(DARS2):c.294+2T>A
NM_018122.5(DARS2):c.294+2_294+7del
NM_018122.5(DARS2):c.452C>A (p.Ala151Asp)	rs2102639360

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