ClinVar Miner

List of variants reported as likely pathogenic for central nervous system malformation by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
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_005559.4(LAMA1):c.858+1G>T rs141914419 0.00012
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro) rs775295739 0.00006
NM_025265.4(TSEN2):c.1099+1G>A rs149417061 0.00004
NM_001128159.3(VPS53):c.1312_1313+2del rs768997239 0.00003
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys) rs772887102 0.00003
NM_025265.4(TSEN2):c.353_354del (p.Gln118fs) rs755246924 0.00002
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg) rs869312898 0.00001
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr) rs1325914775 0.00001
NM_020320.5(RARS2):c.1406G>A (p.Arg469His) rs759331139 0.00001
NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter) rs376815626 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NC_000006.11:g.(86251762_86252899)_(86259598_86267693)dup
NC_000014.8:g.(97313682_97319167)_(97322924_97326893)del
NC_000017.10:g.(?_411907)_(618097_?)del
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
NM_001128159.3(VPS53):c.1704+1G>A
NM_001128159.3(VPS53):c.1787+1G>A
NM_001128159.3(VPS53):c.594del (p.Gln199fs)
NM_001128159.3(VPS53):c.869G>A (p.Trp290Ter) rs370828258
NM_001368809.2(AMPD2):c.646del (p.Leu216fs)
NM_002768.5(CHMP1A):c.271C>T (p.Gln91Ter)
NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter) rs372318863
NM_005559.4(LAMA1):c.7195+2T>A
NM_006831.3(CLP1):c.55C>T (p.Arg19Ter)
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
NM_016042.4(EXOSC3):c.624_626+1del rs769374744
NM_016955.4(SEPSECS):c.114+3A>G
NM_020320.5(RARS2):c.1490C>G (p.Ser497Ter)
NM_020320.5(RARS2):c.1511+1G>A rs1772453347
NM_020320.5(RARS2):c.1628_1631del (p.Asp543fs) rs757778880
NM_020320.5(RARS2):c.297+1G>C
NM_020320.5(RARS2):c.2T>G (p.Met1Arg) rs199862050
NM_020320.5(RARS2):c.613-3927C>T rs1410239766
NM_020320.5(RARS2):c.633_636del (p.Glu212fs) rs755936301
NM_021926.4(ALX4):c.16dup (p.Cys6fs) rs746479735
NM_025265.4(TSEN2):c.960+1_960+5del rs886037738
NM_207346.3(TSEN54):c.1335del (p.Leu446fs) rs587784476
NM_207346.3(TSEN54):c.1535del (p.Phe512fs) rs2147019791
NM_207346.3(TSEN54):c.621_623+9del
NM_207346.3(TSEN54):c.856_862dup (p.Val288fs)

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