List of variants in gene DARS2 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_018122.5(DARS2):c.536G>A (p.Arg179His)	rs121918210	0.00004
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln)	rs121918207	0.00002
NM_018122.5(DARS2):c.785C>T (p.Ala262Val)	rs1281179187	0.00001
NM_018122.5(DARS2):c.1094del (p.Gly365fs)	rs1553202681
NM_018122.5(DARS2):c.1355T>G (p.Leu452Ter)	rs1057524364
NM_018122.5(DARS2):c.1501C>T (p.His501Tyr)	rs1064793097
NM_018122.5(DARS2):c.1762C>G (p.Leu588Val)	rs972404343
NM_018122.5(DARS2):c.382G>C (p.Gly128Arg)
NM_018122.5(DARS2):c.397-2A>G
NM_018122.5(DARS2):c.505C>T (p.Leu169Phe)	rs1064794825
NM_018122.5(DARS2):c.527T>C (p.Leu176Ser)	rs1085307970
NM_018122.5(DARS2):c.749T>C (p.Leu250Pro)	rs778283912
NM_018122.5(DARS2):c.796C>T (p.Arg266Ter)
NM_018122.5(DARS2):c.948del (p.Pro317fs)	rs1085307776

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