ClinVar Miner

List of variants studied for Distal spinal muscular atrophy by Illumina Laboratory Services, Illumina

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Total variants: 81
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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.2145A>G (p.Thr715=) rs4593 0.08113
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_002047.2(GARS1):c.-205C>T rs17159262 0.03007
NM_002047.2(GARS1):c.-217A>G rs2970504 0.02929
NM_002047.2(GARS1):c.-317G>A rs116125961 0.01714
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.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_002047.4(GARS1):c.*73A>G rs113598818 0.00687
NM_002047.2(GARS1):c.-225G>A rs148593022 0.00641
NM_002047.4(GARS1):c.*67C>G rs142498676 0.00506
NM_002047.2(GARS1):c.-177T>C rs78980639 0.00437
NM_002047.2(GARS1):c.-280G>A rs73294431 0.00364
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_002047.2(GARS1):c.-85C>A rs777045330 0.00243
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280 0.00210
NM_002047.4(GARS1):c.*145C>A rs904772533 0.00152
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627 0.00120
NM_002047.2(GARS1):c.-69T>A rs527307703 0.00098
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286 0.00063
NM_002047.2(GARS1):c.-237A>C rs540431164 0.00053
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.302G>A (p.Arg101His) rs200887429 0.00022
NM_002047.2(GARS1):c.-80C>T rs886062270 0.00014
NM_002047.4(GARS1):c.1809+14T>C rs367739730 0.00010
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.700G>A (p.Glu234Lys) rs373326652 0.00009
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
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.-36C>T rs531483802 0.00006
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser) rs538571144 0.00006
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.764C>T (p.Ala255Val) rs765478968 0.00006
NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln) rs200726600 0.00004
NM_002047.4(GARS1):c.1923T>C (p.His641=) rs182542046 0.00003
NM_002047.4(GARS1):c.882-4A>G rs778219649 0.00003
NM_002047.2(GARS1):c.-166T>G rs1008764831 0.00001
NM_002047.4(GARS1):c.1059C>G (p.His353Gln) rs886062273 0.00001
NM_002047.4(GARS1):c.1188T>C (p.Val396=) rs779184435 0.00001
NM_002047.4(GARS1):c.1253C>T (p.Thr418Met) rs746139865 0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_002047.4(GARS1):c.2211C>T (p.Ile737=) rs886062274 0.00001
NM_002047.4(GARS1):c.384G>A (p.Leu128=) rs886062272 0.00001
NM_002047.4(GARS1):c.766G>C (p.Asp256His) rs201399681 0.00001
NM_002047.2(GARS1):c.-180G>C rs919928419
NM_002047.2(GARS1):c.-195A>T rs940014942
NM_002047.2(GARS1):c.-197G>C rs886062269
NM_002047.2(GARS1):c.-59C>T rs886062271
NM_002047.2(GARS1):c.-64C>T rs932663016
NM_002047.2(GARS1):c.-69T>G rs527307703
NM_002047.4(GARS1):c.*145del rs529035174
NM_002047.4(GARS1):c.*36del rs758974790
NM_002047.4(GARS1):c.*50_*51del rs70983380
NM_002047.4(GARS1):c.*51del rs70983380
NM_002047.4(GARS1):c.-36C>A rs531483802
NM_002047.4(GARS1):c.1143G>C (p.Gln381His) rs1782883200
NM_002047.4(GARS1):c.1194+3A>C rs1782884805
NM_002047.4(GARS1):c.1770A>G (p.Glu590=) rs1783175611
NM_002047.4(GARS1):c.616G>A (p.Val206Ile) rs1584026136
NM_003790.3(TNFRSF25):c.-43_-36del rs45616733
NM_020631.5(PLEKHG5):c.*1376_*1379delGCGG rs45542640
NM_020631.5(PLEKHG5):c.*750delC rs886046493
NM_020631.5(PLEKHG5):c.*751delT rs372197062
NM_020631.5(PLEKHG5):c.*978dup rs553519753
NM_020631.6(PLEKHG5):c.2145GGA[10] (p.Glu723_Gly724insGluGlu) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723_Gly724insGlu) rs113541584
NM_020631.6(PLEKHG5):c.2759_2761del (p.Pro920del) rs536097668
NM_020631.6(PLEKHG5):c.43+14_43+20del rs527883968

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