ClinVar Miner

List of variants in gene DARS2 reported as pathogenic for not provided

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_018122.5(DARS2):c.492+2T>C rs142433332 0.00034
NM_018122.5(DARS2):c.455G>T (p.Cys152Phe) rs121918208 0.00011
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.760G>A (p.Gly254Ser) rs766714463 0.00002
NM_018122.5(DARS2):c.159_160del (p.Cys54fs) rs773706813 0.00001
NM_018122.5(DARS2):c.562C>T (p.Arg188Ter) rs751929342 0.00001
GRCh37/hg19 1q25.1(chr1:173803611-173803657)x1
NC_000001.10:g.(?_173794368)_(173800788_?)del
NC_000001.10:g.(?_173806058)_(173810131_?)del
NM_018122.5(DARS2):c.1011dup (p.Gly338fs)
NM_018122.5(DARS2):c.1065del (p.Leu356fs)
NM_018122.5(DARS2):c.1083_1086del (p.Lys362fs)
NM_018122.5(DARS2):c.1173_1179del (p.Ala392fs) rs770447116
NM_018122.5(DARS2):c.1272_1273delinsC (p.Glu425fs) rs1553204327
NM_018122.5(DARS2):c.1273G>T (p.Glu425Ter) rs121918211
NM_018122.5(DARS2):c.1352dup (p.Leu451fs) rs1169437542
NM_018122.5(DARS2):c.1366C>T (p.Arg456Ter)
NM_018122.5(DARS2):c.1395_1396del (p.Gly467fs) rs1334706550
NM_018122.5(DARS2):c.1427dup (p.Ser477fs)
NM_018122.5(DARS2):c.1452C>G (p.Phe484Leu) rs181672516
NM_018122.5(DARS2):c.1552G>T (p.Glu518Ter)
NM_018122.5(DARS2):c.1762C>G (p.Leu588Val) rs972404343
NM_018122.5(DARS2):c.223C>T (p.Arg75Ter) rs1557852998
NM_018122.5(DARS2):c.228-15C>A rs200392167
NM_018122.5(DARS2):c.228-16C>A rs778731200
NM_018122.5(DARS2):c.228-21_228-20delinsC rs1553201258
NM_018122.5(DARS2):c.535C>T (p.Arg179Cys)
NM_018122.5(DARS2):c.559del (p.Leu187fs) rs2102641279
NM_018122.5(DARS2):c.6C>G (p.Tyr2Ter) rs2102629804
NM_018122.5(DARS2):c.728del (p.Pro243fs)
NM_018122.5(DARS2):c.742C>T (p.Gln248Ter) rs772489337
NM_018122.5(DARS2):c.787C>T (p.Arg263Ter) rs121918206
NM_018122.5(DARS2):c.796C>T (p.Arg266Ter)
NM_018122.5(DARS2):c.823C>T (p.Gln275Ter)
NM_018122.5(DARS2):c.948del (p.Pro317fs) rs1085307776

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