ClinVar Miner

List of variants in gene GARS1 reported as uncertain significance by GeneDx

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_002047.4(GARS1):c.302G>A (p.Arg101His) rs200887429 0.00022
NM_002047.4(GARS1):c.882-15T>G rs199741850 0.00008
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628 0.00007
NM_002047.4(GARS1):c.100C>T (p.Arg34Trp) rs928410877 0.00006
NM_002047.2(GARS1):c.-45C>T rs903029869 0.00005
NM_002047.4(GARS1):c.-31C>A rs549993976 0.00004
NM_002047.4(GARS1):c.1828G>A (p.Val610Ile) rs201432170 0.00004
NM_002047.4(GARS1):c.59T>C (p.Leu20Pro) rs756664556 0.00004
NM_002047.4(GARS1):c.787G>A (p.Val263Ile) rs77518956 0.00004
NM_002047.4(GARS1):c.163A>G (p.Met55Val) rs900324585 0.00003
NM_002047.4(GARS1):c.305A>G (p.Lys102Arg) rs369224847 0.00003
NM_002047.4(GARS1):c.112G>A (p.Ala38Thr) rs759499740 0.00002
NM_002047.4(GARS1):c.1159G>A (p.Ala387Thr) rs776528885 0.00002
NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys) rs753947676 0.00002
NM_002047.4(GARS1):c.637C>T (p.Arg213Cys) rs769780656 0.00002
NM_002047.4(GARS1):c.-1C>A rs1257498883 0.00001
NM_002047.4(GARS1):c.1234C>T (p.Arg412Cys) rs770924455 0.00001
NM_002047.4(GARS1):c.1359+1G>A rs868796615 0.00001
NM_002047.4(GARS1):c.1399T>A (p.Tyr467Asn) rs368388267 0.00001
NM_002047.4(GARS1):c.1729C>A (p.Pro577Thr) rs754547488 0.00001
NM_002047.4(GARS1):c.1751T>A (p.Ile584Asn) rs864622616 0.00001
NM_002047.4(GARS1):c.1784T>C (p.Val595Ala) rs373694973 0.00001
NM_002047.4(GARS1):c.1859C>T (p.Pro620Leu) rs892958904 0.00001
NM_002047.4(GARS1):c.186G>C (p.Glu62Asp) rs1554336540 0.00001
NM_002047.4(GARS1):c.2064C>T (p.Asp688=) rs528105619 0.00001
NM_002047.4(GARS1):c.227A>G (p.Asp76Gly) rs780858299 0.00001
NM_002047.4(GARS1):c.471G>C (p.Leu157Phe) rs367915362 0.00001
NM_002047.4(GARS1):c.662A>G (p.His221Arg) rs1279978899 0.00001
NM_002047.4(GARS1):c.733C>A (p.Gln245Lys) rs756629704 0.00001
NM_002047.4(GARS1):c.980G>C (p.Gly327Ala) rs774283805 0.00001
NM_002047.4(GARS1):c.-38G>A rs1054637945
NM_002047.4(GARS1):c.1007C>G (p.Pro336Arg) rs2128134025
NM_002047.4(GARS1):c.1095C>G (p.Phe365Leu)
NM_002047.4(GARS1):c.1170G>A (p.Met390Ile) rs1436808636
NM_002047.4(GARS1):c.1208A>G (p.Asn403Ser) rs1000458033
NM_002047.4(GARS1):c.1379G>C (p.Gly460Ala) rs924595179
NM_002047.4(GARS1):c.1465C>T (p.Pro489Ser)
NM_002047.4(GARS1):c.1468-1C>G rs2128135187
NM_002047.4(GARS1):c.1474G>A (p.Val492Ile)
NM_002047.4(GARS1):c.1495C>T (p.Pro499Ser) rs1428449193
NM_002047.4(GARS1):c.1643C>G (p.Thr548Arg) rs541222096
NM_002047.4(GARS1):c.1708G>A (p.Val570Ile) rs1783172399
NM_002047.4(GARS1):c.1945G>C (p.Asp649His)
NM_002047.4(GARS1):c.2096T>A (p.Ile699Asn) rs2128136441
NM_002047.4(GARS1):c.235C>T (p.Arg79Ter) rs1479788149
NM_002047.4(GARS1):c.313C>G (p.Leu105Val) rs1791317535
NM_002047.4(GARS1):c.3G>A (p.Met1Ile) rs781520666
NM_002047.4(GARS1):c.427G>A (p.Gly143Ser) rs1584022929
NM_002047.4(GARS1):c.46C>G (p.Leu16Val) rs2128131920
NM_002047.4(GARS1):c.47TGC[7] (p.Leu19_Leu20dup) rs150213018
NM_002047.4(GARS1):c.481A>G (p.Ile161Val) rs1202467613
NM_002047.4(GARS1):c.553C>G (p.Pro185Ala)
NM_002047.4(GARS1):c.557_558delinsGC (p.Glu186Gly) rs2128132725
NM_002047.4(GARS1):c.638G>A (p.Arg213His) rs780116880

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