ClinVar Miner

List of variants in gene HARS2 reported as uncertain significance by GeneDx

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_012208.4(HARS2):c.784C>G (p.Pro262Ala) rs145104612 0.00083
NM_012208.4(HARS2):c.152A>G (p.Glu51Gly) rs140083454 0.00036
NM_012208.4(HARS2):c.956T>C (p.Ile319Thr) rs74755920 0.00029
NM_012208.4(HARS2):c.1254G>C (p.Gln418His) rs138090816 0.00015
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys) rs140540222 0.00008
NM_012208.4(HARS2):c.1039C>G (p.Gln347Glu) rs372191938 0.00007
NM_012208.4(HARS2):c.1120A>G (p.Lys374Glu) rs759905986 0.00005
NM_012208.4(HARS2):c.643C>T (p.Arg215Trp) rs758323052 0.00005
NM_012208.4(HARS2):c.1432A>G (p.Lys478Glu) rs987642735 0.00004
NM_012208.4(HARS2):c.151G>A (p.Glu51Lys) rs773430229 0.00004
NM_012208.4(HARS2):c.803T>C (p.Ile268Thr) rs554161150 0.00004
NM_012208.4(HARS2):c.1512dup (p.Glu505Ter) rs863224041 0.00003
NM_012208.4(HARS2):c.1515G>T (p.Glu505Asp) rs370053420 0.00003
NM_012208.4(HARS2):c.698G>A (p.Arg233His) rs771275914 0.00003
NM_012208.4(HARS2):c.145C>T (p.His49Tyr) rs370203603 0.00002
NM_012208.4(HARS2):c.385C>T (p.Arg129Cys) rs533472697 0.00002
NM_012208.4(HARS2):c.705C>G (p.Ile235Met) rs1275449413 0.00002
NM_012208.4(HARS2):c.1153A>G (p.Ile385Val) rs1331020925 0.00001
NM_012208.4(HARS2):c.1217G>A (p.Arg406Gln) rs752472621 0.00001
NM_012208.4(HARS2):c.1316C>G (p.Ala439Gly) rs1160767461 0.00001
NM_012208.4(HARS2):c.1340C>T (p.Pro447Leu) rs753513318 0.00001
NM_012208.4(HARS2):c.1343A>G (p.Lys448Arg) rs761684556 0.00001
NM_012208.4(HARS2):c.1354C>T (p.Gln452Ter) rs1320282487 0.00001
NM_012208.4(HARS2):c.1484T>G (p.Phe495Cys) rs757715558 0.00001
NM_012208.4(HARS2):c.371A>C (p.Glu124Ala) rs775131788 0.00001
NM_012208.4(HARS2):c.413G>A (p.Arg138His) rs1432653451 0.00001
NM_012208.4(HARS2):c.472C>T (p.Arg158Trp) rs749279953 0.00001
NM_012208.4(HARS2):c.503G>A (p.Arg168His) rs764476456 0.00001
NM_012208.4(HARS2):c.587T>C (p.Met196Thr) rs773605161 0.00001
NM_012208.4(HARS2):c.697C>T (p.Arg233Cys) rs749799529 0.00001
NM_012208.4(HARS2):c.1033C>G (p.Pro345Ala)
NM_012208.4(HARS2):c.1033C>T (p.Pro345Ser) rs979385946
NM_012208.4(HARS2):c.1147C>T (p.Leu383Phe)
NM_012208.4(HARS2):c.1154T>C (p.Ile385Thr)
NM_012208.4(HARS2):c.1166G>A (p.Arg389Gln)
NM_012208.4(HARS2):c.1239T>C (p.Phe413=) rs753760217
NM_012208.4(HARS2):c.1270G>A (p.Glu424Lys)
NM_012208.4(HARS2):c.1340C>A (p.Pro447His)
NM_012208.4(HARS2):c.1403G>T (p.Gly468Val) rs748402163
NM_012208.4(HARS2):c.1431C>G (p.Ile477Met)
NM_012208.4(HARS2):c.1439G>A (p.Arg480His) rs200089613
NM_012208.4(HARS2):c.1439G>T (p.Arg480Leu) rs200089613
NM_012208.4(HARS2):c.1483T>C (p.Phe495Leu)
NM_012208.4(HARS2):c.165TAT[1] (p.Ile57del) rs876657829
NM_012208.4(HARS2):c.174G>T (p.Lys58Asn) rs1463092734
NM_012208.4(HARS2):c.193G>A (p.Asp65Asn)
NM_012208.4(HARS2):c.389A>G (p.Tyr130Cys) rs763261995
NM_012208.4(HARS2):c.489dup (p.Ile164fs) rs781549967
NM_012208.4(HARS2):c.515T>G (p.Phe172Cys)
NM_012208.4(HARS2):c.641A>G (p.Asp214Gly) rs973137103
NM_012208.4(HARS2):c.706T>C (p.Cys236Arg)
NM_012208.4(HARS2):c.732+6_732+8del rs2149855011
NM_012208.4(HARS2):c.766G>T (p.Val256Leu)

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