ClinVar Miner

List of variants in gene GARS1 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_002047.4(GARS1):c.2190G>A (p.Glu730=) rs190132116 0.00437
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280 0.00210
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627 0.00120
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286 0.00063
NM_002047.4(GARS1):c.675G>A (p.Leu225=) rs369203473 0.00033
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) rs200294578 0.00029
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850 0.00024
NM_002047.4(GARS1):c.51G>A (p.Leu17=) rs202117737 0.00023
NM_002047.4(GARS1):c.302G>A (p.Arg101His) rs200887429 0.00022
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483 0.00021
NM_002047.4(GARS1):c.1543G>A (p.Val515Met) rs367589841 0.00015
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys) rs746056671 0.00014
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272 0.00011
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln) rs369466037 0.00011
NM_002047.4(GARS1):c.765G>A (p.Ala255=) rs201447520 0.00010
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799 0.00009
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
NM_002047.4(GARS1):c.100C>T (p.Arg34Trp) rs928410877 0.00006
NM_002047.4(GARS1):c.1451A>C (p.Lys484Thr) rs528223570 0.00006
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00006
NM_002047.4(GARS1):c.1857C>T (p.Leu619=) rs183573304 0.00006
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337 0.00006
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968 0.00006
NM_002047.4(GARS1):c.1663A>G (p.Met555Val) rs1023871853 0.00005
NM_002047.4(GARS1):c.333G>A (p.Ala111=) rs762212188 0.00005
NM_002047.4(GARS1):c.816A>G (p.Leu272=) rs777128525 0.00005
NM_002047.4(GARS1):c.1158C>T (p.Ser386=) rs373576697 0.00004
NM_002047.4(GARS1):c.1219G>A (p.Gly407Ser) rs370650205 0.00004
NM_002047.4(GARS1):c.1534G>A (p.Ala512Thr) rs750971084 0.00004
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln) rs200726600 0.00004
NM_002047.4(GARS1):c.1737C>T (p.Phe579=) rs752464405 0.00004
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr) rs374378925 0.00004
NM_002047.4(GARS1):c.1828G>A (p.Val610Ile) rs201432170 0.00004
NM_002047.4(GARS1):c.1921C>T (p.His641Tyr) rs191270471 0.00004
NM_002047.4(GARS1):c.3G>T (p.Met1Ile) rs781520666 0.00004
NM_002047.4(GARS1):c.44C>T (p.Ala15Val) rs758037738 0.00004
NM_002047.4(GARS1):c.59T>C (p.Leu20Pro) rs756664556 0.00004
NM_002047.4(GARS1):c.782A>G (p.Tyr261Cys) rs780902152 0.00004
NM_002047.4(GARS1):c.787G>A (p.Val263Ile) rs77518956 0.00004
NM_002047.4(GARS1):c.144C>T (p.Ala48=) rs754360926 0.00003
NM_002047.4(GARS1):c.174G>A (p.Ala58=) rs747227947 0.00003
NM_002047.4(GARS1):c.1923T>C (p.His641=) rs182542046 0.00003
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu) rs201728920 0.00003
NM_002047.4(GARS1):c.69G>A (p.Arg23=) rs762624758 0.00003
NM_002047.4(GARS1):c.882-4A>G rs778219649 0.00003
NM_002047.4(GARS1):c.90C>T (p.Leu30=) rs1057519166 0.00003
NM_002047.4(GARS1):c.1108G>C (p.Asp370His) rs769026859 0.00002
NM_002047.4(GARS1):c.196C>T (p.Pro66Ser) rs776478280 0.00002
NM_002047.4(GARS1):c.1454C>T (p.Pro485Leu) rs1159290036 0.00001
NM_002047.4(GARS1):c.1782T>C (p.His594=) rs762072215 0.00001
NM_002047.4(GARS1):c.1784T>C (p.Val595Ala) rs373694973 0.00001
NM_002047.4(GARS1):c.1969C>T (p.Arg657Cys) rs781585447 0.00001
NM_002047.4(GARS1):c.1996G>A (p.Val666Met) rs544634101 0.00001
NM_002047.4(GARS1):c.2042C>T (p.Pro681Leu) rs879254346 0.00001
NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala) rs530891983 0.00001
NM_002047.4(GARS1):c.2211C>T (p.Ile737=) rs886062274 0.00001
NM_002047.4(GARS1):c.37C>T (p.Arg13Cys) rs1467460367 0.00001
NM_002047.4(GARS1):c.384G>A (p.Leu128=) rs886062272 0.00001
NM_002047.4(GARS1):c.471G>C (p.Leu157Phe) rs367915362 0.00001
NM_002047.4(GARS1):c.492C>G (p.Thr164=) rs368297381 0.00001
NM_002047.4(GARS1):c.531G>A (p.Glu177=) rs759865366 0.00001
NM_002047.4(GARS1):c.662A>G (p.His221Arg) rs1279978899 0.00001
NM_002047.4(GARS1):c.843G>A (p.Met281Ile) rs545669679 0.00001
NM_002047.4(GARS1):c.855C>G (p.Phe285Leu) rs786204099 0.00001
NM_002047.4(GARS1):c.929G>A (p.Arg310Gln) rs1135401748 0.00001
NM_002047.4(GARS1):c.1010G>A (p.Arg337Gln)
NM_002047.4(GARS1):c.1031+1G>A rs1554338272
NM_002047.4(GARS1):c.104C>T (p.Ser35Phe)
NM_002047.4(GARS1):c.1154A>G (p.Gln385Arg) rs2128134481
NM_002047.4(GARS1):c.1162C>G (p.Arg388Gly) rs759277467
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002047.4(GARS1):c.1172G>A (p.Arg391His) rs199832199
NM_002047.4(GARS1):c.1208A>G (p.Asn403Ser) rs1000458033
NM_002047.4(GARS1):c.1312G>A (p.Ala438Thr)
NM_002047.4(GARS1):c.1372A>G (p.Ile458Val)
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1462G>T (p.Glu488Ter)
NM_002047.4(GARS1):c.1578C>T (p.Tyr526=) rs371268919
NM_002047.4(GARS1):c.1614-4G>A rs376324026
NM_002047.4(GARS1):c.1657A>G (p.Lys553Glu) rs1783125497
NM_002047.4(GARS1):c.1697A>G (p.Tyr566Cys)
NM_002047.4(GARS1):c.1719T>G (p.Asn573Lys) rs1242186885
NM_002047.4(GARS1):c.1748G>A (p.Arg583Lys)
NM_002047.4(GARS1):c.1810-2A>T
NM_002047.4(GARS1):c.1904-5G>A
NM_002047.4(GARS1):c.1904C>G (p.Ser635Trp)
NM_002047.4(GARS1):c.1963G>A (p.Gly655Arg)
NM_002047.4(GARS1):c.1977C>T (p.Ala659=) rs746028145
NM_002047.4(GARS1):c.2050G>A (p.Ala684Thr)
NM_002047.4(GARS1):c.2078G>A (p.Arg693Gln)
NM_002047.4(GARS1):c.20T>G (p.Val7Gly)
NM_002047.4(GARS1):c.2209A>G (p.Ile737Val)
NM_002047.4(GARS1):c.286G>A (p.Ala96Thr)
NM_002047.4(GARS1):c.308G>C (p.Arg103Thr)
NM_002047.4(GARS1):c.31G>A (p.Gly11Ser)
NM_002047.4(GARS1):c.325G>A (p.Glu109Lys) rs1036198120
NM_002047.4(GARS1):c.366A>G (p.Ala122=) rs1057521413
NM_002047.4(GARS1):c.373G>A (p.Glu125Lys) rs797044855
NM_002047.4(GARS1):c.460G>A (p.Gly154Ser)
NM_002047.4(GARS1):c.481ATT[1] (p.Ile162del)
NM_002047.4(GARS1):c.606G>A (p.Met202Ile)
NM_002047.4(GARS1):c.691T>G (p.Cys231Gly) rs1584026626
NM_002047.4(GARS1):c.719A>G (p.Glu240Gly)
NM_002047.4(GARS1):c.719A>T (p.Glu240Val) rs1791423440
NM_002047.4(GARS1):c.722G>C (p.Ser241Thr) rs775140242
NM_002047.4(GARS1):c.764C>G (p.Ala255Gly)
NM_002047.4(GARS1):c.93G>A (p.Leu31=) rs2529438

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