ClinVar Miner

List of variants in gene RARS2 studied for central nervous system malformation

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 208
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HGVS dbSNP gnomAD frequency
NM_020320.5(RARS2):c.1512-43T>C rs9450723 0.61345
NM_020320.5(RARS2):c.452-21A>G rs4707374 0.61261
NM_020320.5(RARS2):c.451+140G>A rs34513746 0.32228
NM_020320.5(RARS2):c.111-21C>T rs9450740 0.24263
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg) rs17850652 0.09110
NM_020320.5(RARS2):c.111-19T>G rs6900057 0.07559
NM_020320.5(RARS2):c.974+90T>C rs2273131 0.06641
NM_020320.5(RARS2):c.975-43G>A rs3757371 0.06627
NM_020320.5(RARS2):c.1305+18C>T rs3734908 0.06626
NM_020320.5(RARS2):c.1237+38G>A rs13203056 0.04243
NM_020320.5(RARS2):c.535+60T>C rs35056836 0.03193
NM_020320.5(RARS2):c.703G>A (p.Val235Met) rs35862137 0.03019
NM_020320.5(RARS2):c.991A>G (p.Ile331Val) rs3757370 0.02330
NM_020320.5(RARS2):c.63A>G (p.Pro21=) rs7748563 0.01309
NM_020320.5(RARS2):c.606C>T (p.Leu202=) rs75794097 0.01095
NM_020320.5(RARS2):c.-8A>C rs28381459 0.00245
NM_020320.5(RARS2):c.1410C>A (p.Leu470=) rs139564081 0.00223
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile) rs73496064 0.00172
NM_020320.5(RARS2):c.456T>C (p.Asn152=) rs141374913 0.00070
NM_020320.5(RARS2):c.1518C>T (p.Asp506=) rs754538094 0.00059
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045 0.00046
NM_020320.5(RARS2):c.975-14C>T rs199941996 0.00045
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_020320.5(RARS2):c.879-6T>C rs117516147 0.00036
NM_020320.5(RARS2):c.1637C>T (p.Pro546Leu) rs142348911 0.00026
NM_020320.5(RARS2):c.207A>G (p.Ala69=) rs568483789 0.00025
NM_020320.5(RARS2):c.1108G>C (p.Glu370Gln) rs138490776 0.00023
NM_020320.5(RARS2):c.1512-6T>C rs185924037 0.00022
NM_020320.5(RARS2):c.6G>A (p.Ala2=) rs371542506 0.00018
NM_020320.5(RARS2):c.754T>A (p.Tyr252Asn) rs140692271 0.00018
NM_020320.5(RARS2):c.1413C>G (p.His471Gln) rs187815721 0.00016
NM_020320.5(RARS2):c.472_474del (p.Lys158del) rs757743894 0.00016
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys) rs147844153 0.00011
NM_020320.5(RARS2):c.1306-8C>T rs375589432 0.00010
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro) rs775295739 0.00006
NM_020320.5(RARS2):c.1492A>G (p.Ile498Val) rs200632524 0.00006
NM_020320.5(RARS2):c.1564G>A (p.Val522Ile) rs201386427 0.00006
NM_020320.5(RARS2):c.15T>A (p.Phe5Leu) rs545377358 0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_020320.5(RARS2):c.1512-4T>C rs542159390 0.00005
NM_020320.5(RARS2):c.1544A>G (p.Asp515Gly) rs765088174 0.00005
NM_020320.5(RARS2):c.735G>A (p.Arg245=) rs574006058 0.00005
NM_020320.5(RARS2):c.245G>A (p.Ser82Asn) rs749061654 0.00004
NM_020320.5(RARS2):c.422A>G (p.His141Arg) rs377591456 0.00004
NM_020320.5(RARS2):c.444C>T (p.Thr148=) rs201596004 0.00004
NM_020320.5(RARS2):c.5C>T (p.Ala2Val) rs760114539 0.00004
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) rs199835443 0.00004
NM_020320.5(RARS2):c.1236G>C (p.Lys412Asn) rs200547165 0.00003
NM_020320.5(RARS2):c.1679G>A (p.Arg560His) rs756502974 0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) rs772887102 0.00003
NM_020320.5(RARS2):c.709G>A (p.Ala237Thr) rs771897965 0.00003
NM_020320.5(RARS2):c.-13C>T rs200228607 0.00002
NM_020320.5(RARS2):c.1170C>T (p.Val390=) rs780796866 0.00002
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys) rs767150990 0.00002
NM_020320.5(RARS2):c.1442A>G (p.Tyr481Cys) rs775657290 0.00002
NM_020320.5(RARS2):c.152A>G (p.Glu51Gly) rs863224185 0.00002
NM_020320.5(RARS2):c.160_161del (p.Asp53_Asn54insTer) rs756101515 0.00002
NM_020320.5(RARS2):c.970A>G (p.Thr324Ala) rs774506039 0.00002
NM_020320.5(RARS2):c.1024A>G (p.Met342Val) rs387907048 0.00001
NM_020320.5(RARS2):c.1086G>T (p.Lys362Asn) rs200101535 0.00001
NM_020320.5(RARS2):c.110A>G (p.Glu37Gly) rs768728673 0.00001
NM_020320.5(RARS2):c.1156C>T (p.Arg386Ter) rs199728745 0.00001
NM_020320.5(RARS2):c.1282G>A (p.Gly428Arg) rs764875815 0.00001
NM_020320.5(RARS2):c.1312A>T (p.Lys438Ter) rs1419422047 0.00001
NM_020320.5(RARS2):c.1367G>A (p.Arg456His) rs144447777 0.00001
NM_020320.5(RARS2):c.1369G>A (p.Gly457Arg) rs758894784 0.00001
NM_020320.5(RARS2):c.1406G>A (p.Arg469His) rs759331139 0.00001
NM_020320.5(RARS2):c.1415+2T>C rs772989345 0.00001
NM_020320.5(RARS2):c.1582_1583dup (p.Leu528fs) rs863224183 0.00001
NM_020320.5(RARS2):c.1650+5G>A rs750433723 0.00001
NM_020320.5(RARS2):c.1678C>T (p.Arg560Cys) rs562472225 0.00001
NM_020320.5(RARS2):c.1692C>G (p.Ala564=) rs760078372 0.00001
NM_020320.5(RARS2):c.1708C>T (p.Leu570Phe) rs144242932 0.00001
NM_020320.5(RARS2):c.1724dup (p.Cys576fs) rs863224184 0.00001
NM_020320.5(RARS2):c.26T>C (p.Ile9Thr) rs371367255 0.00001
NM_020320.5(RARS2):c.28G>A (p.Ala10Thr) rs755340864 0.00001
NM_020320.5(RARS2):c.297+2T>G rs574343583 0.00001
NM_020320.5(RARS2):c.517G>A (p.Asp173Asn) rs769045045 0.00001
NM_020320.5(RARS2):c.660A>C (p.Ala220=) rs553502877 0.00001
NM_020320.5(RARS2):c.685C>T (p.Arg229Ter) rs769473411 0.00001
NM_020320.5(RARS2):c.771+2T>G rs771801398 0.00001
NM_020320.5(RARS2):c.783A>G (p.Val261=) rs770878816 0.00001
NM_020320.5(RARS2):c.848T>A (p.Leu283Gln) rs1258569046 0.00001
NM_020320.5(RARS2):c.879-13T>C rs765999304 0.00001
NM_020320.5(RARS2):c.879-1G>C rs1428801547 0.00001
NM_020320.5(RARS2):c.885A>G (p.Gly295=) rs769636930 0.00001
NM_020320.5(RARS2):c.-2A>G rs201150141
NM_020320.5(RARS2):c.1035+2T>G
NM_020320.5(RARS2):c.1036-9C>T rs886061822
NM_020320.5(RARS2):c.1037C>T (p.Thr346Ile) rs1773402352
NM_020320.5(RARS2):c.1054_1055del (p.Lys352fs) rs756696262
NM_020320.5(RARS2):c.1055dup (p.His353fs)
NM_020320.5(RARS2):c.110+5A>G rs63749985
NM_020320.5(RARS2):c.111-2A>G
NM_020320.5(RARS2):c.1113-2A>G
NM_020320.5(RARS2):c.1168G>A (p.Val390Ile) rs1773191232
NM_020320.5(RARS2):c.1210A>G (p.Met404Val)
NM_020320.5(RARS2):c.122A>G (p.Asp41Gly)
NM_020320.5(RARS2):c.1237+1G>A rs759922477
NM_020320.5(RARS2):c.1237+1G>C
NM_020320.5(RARS2):c.1238-2A>G rs1167507020
NM_020320.5(RARS2):c.1261C>T (p.Gln421Ter)
NM_020320.5(RARS2):c.1297ATT[1] (p.Ile434del) rs1772724414
NM_020320.5(RARS2):c.1305+1G>A rs1408583008
NM_020320.5(RARS2):c.1305+2T>C
NM_020320.5(RARS2):c.1306-1G>A
NM_020320.5(RARS2):c.1315_1318del (p.Gly439fs)
NM_020320.5(RARS2):c.1319T>G (p.Leu440Ter)
NM_020320.5(RARS2):c.1340_1365del (p.Phe447fs) rs1064795060
NM_020320.5(RARS2):c.1357_1358del (p.Phe453fs)
NM_020320.5(RARS2):c.1363A>G (p.Ser455Gly)
NM_020320.5(RARS2):c.1381_1385del (p.Val461fs)
NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter) rs753312969
NM_020320.5(RARS2):c.1415+1G>A
NM_020320.5(RARS2):c.1416-2A>C rs2127999204
NM_020320.5(RARS2):c.1423G>T (p.Glu475Ter) rs886041639
NM_020320.5(RARS2):c.1425_1426del (p.Glu475fs)
NM_020320.5(RARS2):c.1439G>A (p.Gly480Glu) rs760844669
NM_020320.5(RARS2):c.1471C>T (p.Gln491Ter)
NM_020320.5(RARS2):c.1480_1481del (p.Gln494fs) rs776309120
NM_020320.5(RARS2):c.1490C>G (p.Ser497Ter)
NM_020320.5(RARS2):c.1511+1G>A rs1772453347
NM_020320.5(RARS2):c.1511+3A>G rs886061821
NM_020320.5(RARS2):c.1512-1G>A
NM_020320.5(RARS2):c.1533del (p.Lys511fs) rs2127994036
NM_020320.5(RARS2):c.1535C>T (p.Ser512Leu)
NM_020320.5(RARS2):c.1549C>T (p.Gln517Ter)
NM_020320.5(RARS2):c.1554del (p.Arg519fs) rs754610170
NM_020320.5(RARS2):c.1568_1569delinsC (p.Ser523fs)
NM_020320.5(RARS2):c.156dup (p.Asp53fs)
NM_020320.5(RARS2):c.1583dup (p.Leu528fs)
NM_020320.5(RARS2):c.1587-10C>G rs531179961
NM_020320.5(RARS2):c.1612del (p.Thr538fs) rs781417096
NM_020320.5(RARS2):c.1628_1631del (p.Asp543fs) rs757778880
NM_020320.5(RARS2):c.1629_1630del (p.Asp543fs)
NM_020320.5(RARS2):c.1650+1G>T
NM_020320.5(RARS2):c.1675G>A (p.Val559Ile) rs1770872960
NM_020320.5(RARS2):c.176_177del (p.Pro59fs)
NM_020320.5(RARS2):c.189del (p.Gln64fs) rs1085307089
NM_020320.5(RARS2):c.19C>A (p.Arg7Ser)
NM_020320.5(RARS2):c.19C>T (p.Arg7Cys) rs201693843
NM_020320.5(RARS2):c.1A>G (p.Met1Val) rs774923951
NM_020320.5(RARS2):c.1A>T (p.Met1Leu) rs774923951
NM_020320.5(RARS2):c.214C>G (p.Leu72Val) rs1562212838
NM_020320.5(RARS2):c.233_234del (p.Val78fs) rs1582712331
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
NM_020320.5(RARS2):c.262G>A (p.Val88Ile) rs1562212642
NM_020320.5(RARS2):c.277_280del (p.Asn93fs) rs1326705217
NM_020320.5(RARS2):c.282_285del (p.Arg94fs) rs767056243
NM_020320.5(RARS2):c.284_285del (p.Glu95fs) rs767056243
NM_020320.5(RARS2):c.297+1G>C
NM_020320.5(RARS2):c.297+1G>T
NM_020320.5(RARS2):c.29C>T (p.Ala10Val) rs1776518694
NM_020320.5(RARS2):c.2T>G (p.Met1Arg) rs199862050
NM_020320.5(RARS2):c.333del (p.Lys111fs)
NM_020320.5(RARS2):c.340T>C (p.Leu114=) rs1785581058
NM_020320.5(RARS2):c.347_348delinsCTTATTAA (p.Ser116delinsThrTyrTer)
NM_020320.5(RARS2):c.36+1G>T
NM_020320.5(RARS2):c.36+2T>A
NM_020320.5(RARS2):c.370del (p.Gln124fs) rs1554203400
NM_020320.5(RARS2):c.379_385del (p.Ile127fs)
NM_020320.5(RARS2):c.395+1G>A
NM_020320.5(RARS2):c.3G>A (p.Met1Ile) rs2128238503
NM_020320.5(RARS2):c.407T>C (p.Val136Ala) rs1057519014
NM_020320.5(RARS2):c.42del (p.Arg15fs) rs777942571
NM_020320.5(RARS2):c.436_437delinsA (p.Arg146fs)
NM_020320.5(RARS2):c.449T>C (p.Ile150Thr) rs1582576986
NM_020320.5(RARS2):c.452-1G>A
NM_020320.5(RARS2):c.45_46del (p.Arg15fs)
NM_020320.5(RARS2):c.474_477del (p.Glu159fs) rs774755297
NM_020320.5(RARS2):c.488A>G (p.His163Arg) rs1260340118
NM_020320.5(RARS2):c.535+2T>G
NM_020320.5(RARS2):c.536-1G>A
NM_020320.5(RARS2):c.536-5G>A rs1781141008
NM_020320.5(RARS2):c.53_60del (p.Asn18fs)
NM_020320.5(RARS2):c.598C>T (p.Gln200Ter)
NM_020320.5(RARS2):c.610_612+2del
NM_020320.5(RARS2):c.613-3927C>T rs1410239766
NM_020320.5(RARS2):c.617del (p.Tyr206fs)
NM_020320.5(RARS2):c.622C>T (p.Gln208Ter) rs1777321509
NM_020320.5(RARS2):c.633_636del (p.Glu212fs) rs755936301
NM_020320.5(RARS2):c.637G>A (p.Ala213Thr) rs1562102337
NM_020320.5(RARS2):c.699_700insACATC (p.Asp234fs) rs745829550
NM_020320.5(RARS2):c.70_77del (p.Leu24fs)
NM_020320.5(RARS2):c.716C>G (p.Ser239Ter) rs750319167
NM_020320.5(RARS2):c.723G>A (p.Trp241Ter)
NM_020320.5(RARS2):c.726A>G (p.Gln242=) rs145499324
NM_020320.5(RARS2):c.757A>G (p.Ile253Val) rs863224179
NM_020320.5(RARS2):c.772-1G>A rs2128057942
NM_020320.5(RARS2):c.772-3del rs368859792
NM_020320.5(RARS2):c.772-4_772-3del rs368859792
NM_020320.5(RARS2):c.795del (p.Glu265fs)
NM_020320.5(RARS2):c.798T>A (p.Tyr266Ter)
NM_020320.5(RARS2):c.818G>C (p.Arg273Pro) rs139721632
NM_020320.5(RARS2):c.818G>T (p.Arg273Leu) rs139721632
NM_020320.5(RARS2):c.826_842dup (p.Lys281delinsAsnLeuLysArgSerTer)
NM_020320.5(RARS2):c.829C>T (p.Gln277Ter)
NM_020320.5(RARS2):c.839T>G (p.Leu280Ter) rs1256144022
NM_020320.5(RARS2):c.878+5G>T
NM_020320.5(RARS2):c.888G>A (p.Thr296=) rs145189950
NM_020320.5(RARS2):c.888G>C (p.Thr296=) rs145189950
NM_020320.5(RARS2):c.928dup (p.Ile310fs) rs1360282089
NM_020320.5(RARS2):c.963_964del (p.Tyr322fs) rs773838753
NM_020320.5(RARS2):c.997C>T (p.Arg333Ter) rs927427873
NM_020320.5(RARS2):c.998del (p.Arg333fs)
NM_020320.5(RARS2):c.9C>A (p.Cys3Ter) rs762495974

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