ClinVar Miner

List of variants studied for central nervous system malformation by Mendelics

Included ClinVar conditions (163):
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ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro) rs1011320 0.95640
NM_002449.5(MSX2):c.386T>C (p.Met129Thr) rs4242182 0.78320
NM_002449.5(MSX2):c.380-164G>A rs4867776 0.58905
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn) rs9911502 0.58492
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=) rs1127446 0.32239
NM_005559.4(LAMA1):c.4729T>G (p.Ser1577Ala) rs12961939 0.21927
NM_005559.4(LAMA1):c.2021A>C (p.Asn674Thr) rs566655 0.20323
NM_207346.3(TSEN54):c.114T>G (p.His38Gln) rs8079373 0.19277
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser) rs62636640 0.00466
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) rs137852820 0.00026
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595 0.00026
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_138959.3(VANGL1):c.248C>T (p.Ser83Leu) rs146695372 0.00010
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys) rs779241085 0.00005
NM_020320.5(RARS2):c.422A>G (p.His141Arg) rs377591456 0.00004
NM_022914.2(ACD):c.137delG (p.Arg46Leufs) rs753666055 0.00004
NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile) rs142863074 0.00003
NM_138959.3(VANGL1):c.518G>A (p.Arg173His) rs148341022 0.00003
NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser) rs541195377 0.00001
NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr) rs755786784 0.00001
NM_001384732.1(CPLANE1):c.7588+7A>G rs773662834 0.00001
NM_016111.4(TELO2):c.1825C>T (p.Arg609Cys) rs766665093 0.00001
NM_016111.4(TELO2):c.1842+5G>A rs758551997 0.00001
NM_020320.5(RARS2):c.1282G>A (p.Gly428Arg) rs764875815 0.00001
NM_207346.3(TSEN54):c.277T>C (p.Ser93Pro) rs113994151 0.00001
NM_001077446.4(TSEN34):c.862_865dup (p.Leu289fs) rs1246937494
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001367721.1(CASK):c.1385_1394del (p.Pro462fs) rs1602292205
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter) rs1555981717
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp) rs727505397
NM_001367721.1(CASK):c.2429G>A (p.Ser810Asn) rs1602220170
NM_001367721.1(CASK):c.774_780del (p.Met258fs) rs1602424869
NM_001367721.1(CASK):c.787G>A (p.Glu263Lys) rs1602424843
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001384732.1(CPLANE1):c.3290-2A>G rs606231260
NM_001384732.1(CPLANE1):c.586T>C (p.Cys196Arg) rs2150766539
NM_001497.4(B4GALT1):c.5G>C (p.Arg2Thr) rs1587756000
NM_002547.3(OPHN1):c.1138+1G>A rs1602226670
NM_002547.3(OPHN1):c.597+2T>C rs2147484573
NM_004958.4(MTOR):c.4298T>C (p.Leu1433Ser) rs2100609915
NM_005559.4(LAMA1):c.2274+70dup rs113133818
NM_014846.4(WASHC5):c.420T>A (p.Cys140Ter) rs148562491
NM_020320.5(RARS2):c.-2A>G rs201150141
NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter) rs753312969
NM_020320.5(RARS2):c.407T>C (p.Val136Ala) rs1057519014
NM_020320.5(RARS2):c.449T>C (p.Ile150Thr) rs1582576986
NM_153816.6(SNX14):c.1608+1G>T rs749656742
NM_207346.3(TSEN54):c.221+3G>T rs2147005856
NM_207346.3(TSEN54):c.249G>A (p.Arg83=) rs2147006296

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