ClinVar Miner

List of variants reported as uncertain significance for Distal spinal muscular atrophy

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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.1414del (p.Ser472fs) rs780764641 0.01449
NM_002047.2(GARS1):c.-85C>A rs777045330 0.00243
NM_002047.4(GARS1):c.*145C>A rs904772533 0.00152
NM_002047.2(GARS1):c.-237A>C rs540431164 0.00053
NM_004990.4(MARS1):c.746C>T (p.Pro249Leu) rs146146070 0.00044
NM_002047.2(GARS1):c.-80C>T rs886062270 0.00014
NM_021815.5(SLC5A7):c.1549G>A (p.Val517Ile) rs773393717 0.00014
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro) rs201060167 0.00008
NM_002047.4(GARS1):c.-36C>T rs531483802 0.00006
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys) rs201563456 0.00004
NM_002047.4(GARS1):c.882-4A>G rs778219649 0.00003
NM_181882.3(PRX):c.2603A>G (p.Gln868Arg) rs1340773932 0.00003
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp) rs755701957 0.00002
NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927 0.00002
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639 0.00002
NM_015046.7(SETX):c.895C>T (p.Arg299Cys) rs777182592 0.00002
NM_024577.4(SH3TC2):c.2578C>T (p.Leu860Phe) rs139958177 0.00002
NM_001130438.3(SPTAN1):c.1534T>G (p.Phe512Val) rs147444364 0.00001
NM_001136472.2(LITAF):c.*138G>C rs898867952 0.00001
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.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_002047.4(GARS1):c.2211C>T (p.Ile737=) rs886062274 0.00001
NM_002047.4(GARS1):c.332C>T (p.Ala111Val) rs370531212 0.00001
NM_002047.4(GARS1):c.384G>A (p.Leu128=) rs886062272 0.00001
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter) rs372000714 0.00001
NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter) rs1479493690 0.00001
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750 0.00001
NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter) rs991227431 0.00001
NM_020631.6(PLEKHG5):c.2249+4C>T rs751575330 0.00001
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn) rs770149544 0.00001
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys) rs267607146 0.00001
NM_024577.4(SH3TC2):c.386-2A>C rs145670786 0.00001
NM_181882.3(PRX):c.2579A>C (p.Asp860Ala) rs759471716 0.00001
NM_205836.3(FBXO38):c.1859G>A (p.Arg620Gln) rs766830490 0.00001
NC_000011.10:g.68906238_68929183del
NM_001136472.2(LITAF):c.*116C>A rs1597324647
NM_001136472.2(LITAF):c.331_332dup (p.Gly112fs) rs1597329269
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp) rs864309503
NM_001374736.1(DST):c.3061-2A>T rs1454639285
NM_001376.5(DYNC1H1):c.149C>A (p.Ala50Asp) rs1350501046
NM_001376.5(DYNC1H1):c.248C>T (p.Thr83Met) rs1400787976
NM_001376.5(DYNC1H1):c.3574A>C (p.Asn1192His) rs1265590172
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly) rs201272954
NM_001605.3(AARS1):c.488A>G (p.Asp163Gly) rs1597443484
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.*50_*51del rs70983380
NM_002047.4(GARS1):c.*51del rs70983380
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1143G>C (p.Gln381His) rs1782883200
NM_002047.4(GARS1):c.1194+3A>C rs1782884805
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1528A>C (p.Lys510Gln) rs1584044584
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg) rs137852646
NM_002047.4(GARS1):c.1770A>G (p.Glu590=) rs1783175611
NM_002047.4(GARS1):c.547C>T (p.Leu183Phe) rs1584024072
NM_002047.4(GARS1):c.616G>A (p.Val206Ile) rs1584026136
NM_002047.4(GARS1):c.647A>G (p.His216Arg) rs768987322
NM_002180.3(IGHMBP2):c.1060+1G>T rs1366461184
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys) rs776730737
NM_002180.3(IGHMBP2):c.121del (p.Gln41fs) rs1332319177
NM_002180.3(IGHMBP2):c.1235+3A>G rs1369278472
NM_002180.3(IGHMBP2):c.1277T>C (p.Leu426Pro) rs1555247218
NM_002180.3(IGHMBP2):c.1325A>G (p.Tyr442Cys) rs1594451320
NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro) rs571142182
NM_002180.3(IGHMBP2):c.1415T>C (p.Leu472Pro) rs1594451536
NM_002180.3(IGHMBP2):c.1648_1649insG (p.Gln550fs) rs1594454167
NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter) rs1000091588
NM_002180.3(IGHMBP2):c.1743A>C (p.Arg581Ser) rs1594454382
NM_002180.3(IGHMBP2):c.1748A>T (p.Asn583Ile) rs1594454388
NM_002180.3(IGHMBP2):c.1756G>T (p.Gly586Cys) rs56052951
NM_002180.3(IGHMBP2):c.1807C>T (p.Arg603Cys) rs1465803265
NM_002180.3(IGHMBP2):c.1877del (p.Leu626fs) rs1594455576
NM_002180.3(IGHMBP2):c.1969C>T (p.Gln657Ter) rs866417417
NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs) rs750994603
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.50T>C (p.Leu17Pro) rs1594412120
NM_002180.3(IGHMBP2):c.616C>T (p.Gln206Ter) rs1594422624
NM_002180.3(IGHMBP2):c.647C>T (p.Pro216Leu) rs1594422676
NM_002180.3(IGHMBP2):c.661A>G (p.Thr221Ala) rs1594422709
NM_002180.3(IGHMBP2):c.661del (p.Thr221fs) rs779716706
NM_002180.3(IGHMBP2):c.721T>C (p.Cys241Arg) rs1594427373
NM_002180.3(IGHMBP2):c.752T>C (p.Leu251Pro) rs1594427489
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter) rs557416644
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003384.3(VRK1):c.656G>T (p.Arg219Ile) rs1595676517
NM_003384.3(VRK1):c.761G>T (p.Trp254Leu) rs1172497555
NM_004453.4(ETFDH):c.523_524insAGCA (p.Arg175fs) rs1554031715
NM_004960.3(FUS):c.*2201dup rs1555510151
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.6407G>A (p.Arg2136His) rs121434378
NM_015046.7(SETX):c.8C>T (p.Thr3Ile) rs28941475
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[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
NM_021625.5(TRPV4):c.37G>A (p.Gly13Arg) rs763302555
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024577.4(SH3TC2):c.1654G>C (p.Glu552Gln) rs551953142
NM_181882.3(PRX):c.2612T>C (p.Val871Ala) rs201389706
NM_181882.3(PRX):c.862G>C (p.Val288Leu) rs568618329

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