ClinVar Miner

List of variants reported as not provided for central nervous system malformation

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 114
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469 0.00053
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_018082.6(POLR3B):c.2817+30T>A rs142517808 0.00025
NM_018082.6(POLR3B):c.2084-6A>G rs747912710 0.00011
NM_005559.4(LAMA1):c.1274G>C (p.Gly425Ala) rs368665310 0.00009
NM_018082.6(POLR3B):c.2944A>G (p.Asn982Asp) rs368213717 0.00009
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter) rs201677741 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_005027.4(PIK3R2):c.379C>T (p.Leu127Phe) rs542398089 0.00006
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_018082.6(POLR3B):c.3008A>G (p.Tyr1003Cys) rs368953286 0.00004
NM_018082.6(POLR3B):c.1018C>T (p.Arg340Ter) rs148879912 0.00003
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter) rs267608688 0.00003
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter) rs201128942 0.00003
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr) rs201441120 0.00002
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) rs387907196 0.00002
NM_018082.6(POLR3B):c.1263+2T>C rs774526181 0.00002
NM_018082.6(POLR3B):c.1857-12A>G rs528038639 0.00002
NM_018082.6(POLR3B):c.2774C>T (p.Pro925Leu) rs775141057 0.00002
NM_018082.6(POLR3B):c.2899A>C (p.Ser967Arg) rs200865021 0.00002
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466 0.00001
NM_001759.4(CCND2):c.841C>T (p.Pro281Ser) rs587777621 0.00001
NM_001759.4(CCND2):c.842C>T (p.Pro281Leu) rs587777622 0.00001
NM_001759.4(CCND2):c.851T>G (p.Val284Gly) rs777786993 0.00001
NM_018082.6(POLR3B):c.1253C>T (p.Ala418Val) rs2037453602 0.00001
NM_018082.6(POLR3B):c.1324C>T (p.Arg442Cys) rs1442212683 0.00001
NM_018082.6(POLR3B):c.1464+1G>A rs1158662109 0.00001
NM_018082.6(POLR3B):c.1857-2A>C rs267608686 0.00001
NM_018082.6(POLR3B):c.1900G>A (p.Asp634Asn) rs781671613 0.00001
NM_018082.6(POLR3B):c.1999G>A (p.Val667Met) rs756536922 0.00001
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys) rs371453512 0.00001
NM_018082.6(POLR3B):c.2570+1G>A rs753943393 0.00001
NM_018082.6(POLR3B):c.3035T>C (p.Leu1012Pro) rs749670593 0.00001
NM_018082.6(POLR3B):c.308G>A (p.Arg103His) rs780148992 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NM_207346.3(TSEN54):c.277T>C (p.Ser93Pro) rs113994151 0.00001
NM_000435.3(NOTCH3):c.3172G>T (p.Gly1058Cys)
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter) rs796065045
NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs) rs869312909
NM_000435.3(NOTCH3):c.6498_6577del (p.Ala2167fs) rs1555725043
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter) rs869312911
NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs) rs773656789
NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter) rs869312910
NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp) rs113994150
NM_001082486.2(ACD):c.250_252del (p.Lys84del) rs797045144
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001199198.3(TBC1D23):c.53+100G>A
NM_001199198.3(TBC1D23):c.630del (p.Thr211fs) rs1354130291
NM_001272071.2(AP1S2):c.40C>T (p.Arg14Ter) rs1555904878
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr) rs28936072
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly) rs121912305
NM_001368809.2(AMPD2):c.2089G>C (p.Glu697Gln)
NM_001759.4(CCND2):c.808A>T (p.Lys270Ter) rs587777619
NM_001759.4(CCND2):c.838A>G (p.Thr280Ala) rs587777618
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) rs587777620
NM_001759.4(CCND2):c.842C>G (p.Pro281Arg) rs587777622
NM_002547.3(OPHN1):c.1225C>T (p.Arg409Cys) rs1064795031
NM_002547.3(OPHN1):c.155-2A>C rs1064793755
NM_004958.4(MTOR):c.6674dup (p.Tyr2225Ter) rs1642559236
NM_004958.4(MTOR):c.7391G>T (p.Gly2464Val) rs1641758308
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_005465.7(AKT3):c.548T>A (p.Val183Asp) rs886041100
NM_005465.7(AKT3):c.686A>G (p.Asn229Ser) rs397514605
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys) rs863225429
NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala) rs863225428
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014846.4(WASHC5):c.1883A>G (p.Gln628Arg) rs1816420898
NM_014846.4(WASHC5):c.3335+2T>A rs398123007
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_018082.6(POLR3B):c.1101+1G>C rs773891661
NM_018082.6(POLR3B):c.1112_1113del (p.Leu371fs) rs2037451732
NM_018082.6(POLR3B):c.1325G>T (p.Arg442Leu) rs201153027
NM_018082.6(POLR3B):c.1346T>C (p.Leu449Pro) rs2137002042
NM_018082.6(POLR3B):c.1477G>T (p.Val493Phe) rs1396040670
NM_018082.6(POLR3B):c.1508C>A (p.Thr503Lys) rs267608683
NM_018082.6(POLR3B):c.1533del (p.Ile511fs) rs267608684
NM_018082.6(POLR3B):c.1579T>C (p.Cys527Arg) rs2137003969
NM_018082.6(POLR3B):c.1788C>A (p.Tyr596Ter) rs2137008757
NM_018082.6(POLR3B):c.1939G>A (p.Glu647Lys) rs755658678
NM_018082.6(POLR3B):c.2083+1G>A rs7133068
NM_018082.6(POLR3B):c.2180T>C (p.Leu727Ser) rs758867273
NM_018082.6(POLR3B):c.2190del (p.Phe730fs) rs2137027936
NM_018082.6(POLR3B):c.2683G>A (p.Asp895Asn) rs1428989000
NM_018082.6(POLR3B):c.2686A>T (p.Lys896Ter) rs267608685
NM_018082.6(POLR3B):c.2707del (p.Gln903fs) rs2137036995
NM_018082.6(POLR3B):c.2778C>G (p.Asp926Glu) rs267608689
NM_018082.6(POLR3B):c.2918G>T (p.Cys973Phe) rs2137076093
NM_018082.6(POLR3B):c.2920G>T (p.Glu974Ter) rs2137076107
NM_018082.6(POLR3B):c.3005T>C (p.Ile1002Thr) rs2038598006
NM_018082.6(POLR3B):c.303+1G>A rs2036573956
NM_018082.6(POLR3B):c.3071C>T (p.Ala1024Val) rs2137084674
NM_018082.6(POLR3B):c.312G>T (p.Leu104Phe) rs2136887072
NM_018082.6(POLR3B):c.3349C>G (p.Leu1117Val) rs2137097735
NM_018082.6(POLR3B):c.3352C>T (p.Gln1118Ter) rs2137097739
NM_018082.6(POLR3B):c.79T>C (p.Trp27Arg) rs2136879253
NM_018082.6(POLR3B):c.802A>G (p.Ser268Gly) rs2136917152
NM_018082.6(POLR3B):c.832_833dup (p.Thr279fs) rs1261509815
NM_018082.6(POLR3B):c.967-15A>G rs764250049
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
NM_153816.6(SNX14):c.2557+1G>A rs200277996
NM_207346.3(TSEN54):c.1027C>T (p.Gln343Ter) rs113994154
NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter) rs113994153
Single allele

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