ClinVar Miner

List of variants in gene GARS1 reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_002047.4(GARS1):c.2095-6C>T rs2240401 0.48477
NM_002047.4(GARS1):c.222+5C>T rs2072236 0.09556
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438 0.09548
NM_002047.4(GARS1):c.1613+9T>C rs75855065 0.04917
NM_002047.4(GARS1):c.1833T>C (p.Val611=) rs14270 0.04182
NM_002047.4(GARS1):c.1062T>C (p.Phe354=) rs11553502 0.04180
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770 0.01578
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641 0.01523
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
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.1962C>T (p.Ile654=) rs201927627 0.00120
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) rs200294578 0.00029
NM_002047.4(GARS1):c.51G>A (p.Leu17=) rs202117737 0.00023
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483 0.00021
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln) rs369466037 0.00011
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799 0.00009
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628 0.00007
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00006
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337 0.00006
NM_002047.4(GARS1):c.1991T>C (p.Ile664Thr) rs1064797334 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.882-4A>G rs778219649 0.00003
NM_002047.4(GARS1):c.1782T>C (p.His594=) rs762072215 0.00001
NM_002047.4(GARS1):c.1905G>A (p.Ser635=) rs773889809 0.00001
NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala) rs530891983 0.00001
NM_002047.4(GARS1):c.401A>G (p.Tyr134Cys) rs898879117 0.00001
NM_002047.4(GARS1):c.843G>A (p.Met281Ile) rs545669679 0.00001
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1006C>T (p.Pro336Ser) rs1554338264
NM_002047.4(GARS1):c.104C>G (p.Ser35Cys) rs770934994
NM_002047.4(GARS1):c.1162C>T (p.Arg388Trp) rs759277467
NM_002047.4(GARS1):c.1171C>A (p.Arg391Ser) rs370057212
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002047.4(GARS1):c.1614-4G>A rs376324026
NM_002047.4(GARS1):c.1812C>A (p.Phe604Leu)
NM_002047.4(GARS1):c.302G>T (p.Arg101Leu) rs200887429
NM_002047.4(GARS1):c.647A>G (p.His216Arg) rs768987322
NM_002047.4(GARS1):c.794C>T (p.Ser265Phe) rs1554337974

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