ClinVar Miner

List of variants in gene DARS1 studied for not provided

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Gene type:
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Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_001349.4(DARS1):c.124+67A>G rs687670 0.50631
NM_001349.4(DARS1):c.677-46T>C rs309158 0.25523
NM_001349.4(DARS1):c.-105C>G rs2278682 0.21930
NM_001349.4(DARS1):c.960-86T>C rs309172 0.19678
NM_001349.4(DARS1):c.505-13T>C rs371309040 0.19073
NM_001349.4(DARS1):c.218-105T>C rs6430594 0.16675
NM_001349.4(DARS1):c.66+34A>G rs2278681 0.04614
NM_001349.4(DARS1):c.504+123C>T rs309163 0.02498
NM_001349.4(DARS1):c.1417T>C (p.Leu473=) rs76296777 0.02298
NM_001349.4(DARS1):c.959+104C>A rs113342018 0.02295
NM_001349.4(DARS1):c.-100T>C rs6752967 0.02290
NM_001349.4(DARS1):c.-42C>G rs11548872 0.01112
NM_001349.4(DARS1):c.504+34G>A rs111716305 0.00938
NM_001349.4(DARS1):c.1342+14A>G rs115876148 0.00929
NM_001349.4(DARS1):c.1414+18C>T rs115253602 0.00913
NM_001349.4(DARS1):c.67-149T>G rs115691888 0.00910
NC_000002.12:g.135985829T>C rs79018926 0.00825
NM_001349.4(DARS1):c.676+125del rs200100343 0.00822
NM_001349.4(DARS1):c.802A>G (p.Ile268Val) rs60318326 0.00614
NM_001349.4(DARS1):c.423+21A>G rs79137850 0.00533
NM_001349.4(DARS1):c.590G>A (p.Arg197His) rs141522501 0.00244
NM_001349.4(DARS1):c.1088G>A (p.Gly363Glu) rs2228660 0.00113
NM_001349.4(DARS1):c.822G>A (p.Ala274=) rs112205661 0.00105
NM_001349.4(DARS1):c.1150-5T>G rs199776135 0.00075
NM_001349.4(DARS1):c.321-19G>C rs201046499 0.00073
NM_001349.4(DARS1):c.1391C>T (p.Pro464Leu) rs148806569 0.00058
NM_001349.4(DARS1):c.403G>A (p.Val135Ile) rs140573664 0.00048
NM_001349.4(DARS1):c.124+15G>T rs181377990 0.00028
NM_001349.4(DARS1):c.1149+7C>A rs373337130 0.00020
NM_001349.4(DARS1):c.1158A>G (p.Thr386=) rs373077996 0.00018
NM_001349.4(DARS1):c.671T>C (p.Ile224Thr) rs200961740 0.00018
NM_001349.4(DARS1):c.753G>A (p.Gln251=) rs145963861 0.00009
NM_001349.4(DARS1):c.301A>T (p.Met101Leu) rs138416697 0.00008
NM_001349.4(DARS1):c.1230+17T>C rs369649828 0.00006
NM_001349.4(DARS1):c.125-18C>T rs777497235 0.00006
NM_001349.4(DARS1):c.1432A>C (p.Met478Leu) rs370805809 0.00006
NM_001349.4(DARS1):c.698A>G (p.Asn233Ser) rs139872602 0.00006
NM_001349.4(DARS1):c.1023G>T (p.Glu341Asp) rs200308019 0.00004
NM_001349.4(DARS1):c.157A>G (p.Ile53Val) rs773931622 0.00004
NM_001349.4(DARS1):c.366A>G (p.Lys122=) rs200029648 0.00004
NM_001349.4(DARS1):c.599C>G (p.Ser200Cys) rs771698175 0.00004
NM_001349.4(DARS1):c.1076G>A (p.Gly359Glu) rs374983029 0.00003
NM_001349.4(DARS1):c.1210A>G (p.Met404Val) rs770613720 0.00002
NM_001349.4(DARS1):c.1104G>C (p.Leu368=) rs769215712 0.00001
NM_001349.4(DARS1):c.1125G>A (p.Leu375=) rs769425671 0.00001
NM_001349.4(DARS1):c.1277T>C (p.Leu426Ser) rs377510027 0.00001
NM_001349.4(DARS1):c.1459C>T (p.Arg487Cys) rs587776984 0.00001
NM_001349.4(DARS1):c.1492C>T (p.Arg498Ter) rs763133905 0.00001
NM_001349.4(DARS1):c.466C>T (p.Leu156=) rs571189613 0.00001
NM_001349.4(DARS1):c.570A>G (p.Ser190=) rs765566198 0.00001
NM_001349.4(DARS1):c.858T>C (p.Phe286=) rs369617769 0.00001
NC_000002.12:g.135985740G>T rs16832394
NM_001349.4(DARS1):c.1000T>C (p.Cys334Arg)
NM_001349.4(DARS1):c.1003G>A (p.Glu335Lys)
NM_001349.4(DARS1):c.1024C>A (p.Pro342Thr) rs1681004452
NM_001349.4(DARS1):c.1069G>A (p.Glu357Lys)
NM_001349.4(DARS1):c.1080C>T (p.Val360=)
NM_001349.4(DARS1):c.1083A>G (p.Glu361=) rs760769694
NM_001349.4(DARS1):c.1102C>T (p.Leu368=)
NM_001349.4(DARS1):c.1107-13G>A
NM_001349.4(DARS1):c.1119A>G (p.Glu373=)
NM_001349.4(DARS1):c.1129G>C (p.Gly377Arg) rs761230959
NM_001349.4(DARS1):c.112C>T (p.Gln38Ter)
NM_001349.4(DARS1):c.1149+15A>G
NM_001349.4(DARS1):c.1149+3A>C
NM_001349.4(DARS1):c.1149+7C>G
NM_001349.4(DARS1):c.1149+8T>G rs1365229083
NM_001349.4(DARS1):c.1150-10_1150-8del
NM_001349.4(DARS1):c.1191T>C (p.Ala397=)
NM_001349.4(DARS1):c.1230+13G>A
NM_001349.4(DARS1):c.1230+1G>A
NM_001349.4(DARS1):c.1230+8A>G
NM_001349.4(DARS1):c.1249G>A (p.Asp417Asn)
NM_001349.4(DARS1):c.125-10G>A
NM_001349.4(DARS1):c.125-17G>A
NM_001349.4(DARS1):c.125-18C>G
NM_001349.4(DARS1):c.125-6T>C
NM_001349.4(DARS1):c.1261A>G (p.Arg421Gly) rs1558775639
NM_001349.4(DARS1):c.127C>T (p.Arg43Ter)
NM_001349.4(DARS1):c.1285G>A (p.Ala429Thr)
NM_001349.4(DARS1):c.1323_1324del (p.Arg441fs) rs768678855
NM_001349.4(DARS1):c.1342+12A>G
NM_001349.4(DARS1):c.1342+19T>C
NM_001349.4(DARS1):c.1342+9_1342+13del
NM_001349.4(DARS1):c.1343-7T>A
NM_001349.4(DARS1):c.1343-7T>C rs199507494
NM_001349.4(DARS1):c.1374C>G (p.Ser458=)
NM_001349.4(DARS1):c.1380C>T (p.Arg460=)
NM_001349.4(DARS1):c.1414+19T>G
NM_001349.4(DARS1):c.1415-11del
NM_001349.4(DARS1):c.1426G>A (p.Val476Ile)
NM_001349.4(DARS1):c.1460G>A (p.Arg487His) rs753793246
NM_001349.4(DARS1):c.1480C>T (p.Arg494Cys)
NM_001349.4(DARS1):c.1486C>G (p.Pro496Ala)
NM_001349.4(DARS1):c.159A>C (p.Ile53=)
NM_001349.4(DARS1):c.188G>A (p.Arg63His)
NM_001349.4(DARS1):c.200A>G (p.His67Arg)
NM_001349.4(DARS1):c.217+9G>C
NM_001349.4(DARS1):c.218-22_218-19del rs2104834109
NM_001349.4(DARS1):c.258T>C (p.Asn86=)
NM_001349.4(DARS1):c.276G>A (p.Ala92=)
NM_001349.4(DARS1):c.276G>C (p.Ala92=) rs746768443
NM_001349.4(DARS1):c.320+12A>G
NM_001349.4(DARS1):c.320+8A>G
NM_001349.4(DARS1):c.320A>G (p.Asn107Ser) rs112319042
NM_001349.4(DARS1):c.357T>C (p.Val119=)
NM_001349.4(DARS1):c.380T>C (p.Ile127Thr)
NM_001349.4(DARS1):c.413A>G (p.His138Arg)
NM_001349.4(DARS1):c.423+15A>C
NM_001349.4(DARS1):c.423+17T>C
NM_001349.4(DARS1):c.424-14T>C rs2104811058
NM_001349.4(DARS1):c.433A>G (p.Ile145Val)
NM_001349.4(DARS1):c.456G>T (p.Leu152=) rs1575391182
NM_001349.4(DARS1):c.463C>T (p.Gln155Ter) rs760637079
NM_001349.4(DARS1):c.484C>T (p.Pro162Ser) rs149170955
NM_001349.4(DARS1):c.504+17T>C
NM_001349.4(DARS1):c.504+2T>G
NM_001349.4(DARS1):c.505-15_505-14insC
NM_001349.4(DARS1):c.505-18_505-14del
NM_001349.4(DARS1):c.505-18_505-6del rs781360476
NM_001349.4(DARS1):c.505-3del rs34744196
NM_001349.4(DARS1):c.505-4T>C
NM_001349.4(DARS1):c.505-4_505-3del rs34744196
NM_001349.4(DARS1):c.507A>G (p.Glu169=)
NM_001349.4(DARS1):c.508G>A (p.Gly170Arg)
NM_001349.4(DARS1):c.520G>C (p.Val174Leu)
NM_001349.4(DARS1):c.564+16T>G
NM_001349.4(DARS1):c.565-13T>C
NM_001349.4(DARS1):c.565-6T>C
NM_001349.4(DARS1):c.583G>A (p.Val195Ile)
NM_001349.4(DARS1):c.603C>T (p.Gly201=)
NM_001349.4(DARS1):c.607T>C (p.Cys203Arg)
NM_001349.4(DARS1):c.622G>C (p.Glu208Gln)
NM_001349.4(DARS1):c.667A>G (p.Ile223Val)
NM_001349.4(DARS1):c.67-17A>G
NM_001349.4(DARS1):c.67-6_67-5del rs766794434
NM_001349.4(DARS1):c.682A>G (p.Ser228Gly)
NM_001349.4(DARS1):c.728A>G (p.Asn243Ser)
NM_001349.4(DARS1):c.762G>A (p.Lys254=)
NM_001349.4(DARS1):c.767T>A (p.Met256Lys) rs1215736567
NM_001349.4(DARS1):c.821C>G (p.Ala274Gly)
NM_001349.4(DARS1):c.832A>T (p.Asn278Tyr)
NM_001349.4(DARS1):c.84A>G (p.Arg28=)
NM_001349.4(DARS1):c.858T>G (p.Phe286Leu)
NM_001349.4(DARS1):c.85T>G (p.Tyr29Asp) rs1201609764
NM_001349.4(DARS1):c.87T>C (p.Tyr29=)
NM_001349.4(DARS1):c.898C>G (p.His300Asp)
NM_001349.4(DARS1):c.900C>T (p.His300=)
NM_001349.4(DARS1):c.949C>T (p.Leu317Phe)
NM_001349.4(DARS1):c.959+17G>A rs1426607525
NM_001349.4(DARS1):c.959+3A>T
NM_001349.4(DARS1):c.959+65dup rs550446877
NM_001349.4(DARS1):c.960-15T>C
NM_001349.4(DARS1):c.985A>C (p.Asn329His)
NM_001349.4(DARS1):c.987T>C (p.Asn329=)

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