ClinVar Miner

List of variants studied for central nervous system malformation by Broad Institute Rare Disease Group, Broad Institute

Included ClinVar conditions (162):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
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_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
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_018082.6(POLR3B):c.2944A>G (p.Asn982Asp) rs368213717 0.00009
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_001368809.2(AMPD2):c.1345C>T (p.Arg449Ter) rs760433806 0.00004
NM_018082.6(POLR3B):c.1988C>T (p.Thr663Ile) rs755312623 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_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
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_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_153816.6(SNX14):c.331C>T (p.Arg111Ter) rs760752847 0.00002
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001368809.2(AMPD2):c.1546T>C (p.Trp516Arg) rs1650946025 0.00001
NM_018082.6(POLR3B):c.1464+1G>A rs1158662109 0.00001
NM_018082.6(POLR3B):c.1615G>T (p.Val539Phe) rs1171962004 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.2104C>T (p.Arg702Ter) rs201401034 0.00001
NM_018082.6(POLR3B):c.2278G>A (p.Ala760Thr) rs146513209 0.00001
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys) rs371453512 0.00001
NM_018082.6(POLR3B):c.2413C>T (p.Arg805Ter) rs1437442253 0.00001
NM_018082.6(POLR3B):c.2570+1G>A rs753943393 0.00001
NM_018082.6(POLR3B):c.2818-1G>T rs1057520785 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_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys) rs751459271 0.00001
NM_018082.6(POLR3B):c.3317T>C (p.Ile1106Thr) rs765382317 0.00001
NM_018082.6(POLR3B):c.985C>T (p.Arg329Ter) rs758437925 0.00001
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) rs774694340 0.00001
GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1
GRCh38/hg38 Xp11.4(chrX:41333187-42099271)x1
GRCh38/hg38 Xp11.4(chrX:41786713-41853325)x0
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val) rs372012542
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2573T>C (p.Leu858Pro) rs1583187059
NM_001135146.2(SLC39A8):c.337T>C (p.Cys113Arg) rs950101299
NM_001199198.3(TBC1D23):c.1687+2T>A rs1553731605
NM_001272071.2(AP1S2):c.*241A>C
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp) rs1569302194
NM_001367721.1(CASK):c.1915C>T (p.Arg639Ter) rs137852815
NM_001367721.1(CASK):c.1970G>A (p.Trp657Ter) rs1602253509
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter) rs587783361
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001378615.1(CC2D2A):c.2993AAG[2] (p.Glu1000del) rs764874938
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.4552C>T (p.Arg1518Trp) rs767260373
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn) rs587777620
NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)
NM_003384.3(VRK1):c.397C>G (p.Arg133Gly) rs387906830
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_005559.4(LAMA1):c.4715del (p.Gly1572fs)
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
NM_016955.4(SEPSECS):c.1000T>C (p.Tyr334His) rs1029077401
NM_017777.4(MKS1):c.959-5C>A rs765242131
NM_018082.6(POLR3B):c.1325G>T (p.Arg442Leu) rs201153027
NM_018082.6(POLR3B):c.1533del (p.Ile511fs) rs267608684
NM_018082.6(POLR3B):c.1580G>T (p.Cys527Phe)
NM_018082.6(POLR3B):c.1627+7A>G
NM_018082.6(POLR3B):c.2180T>C (p.Leu727Ser) rs758867273
NM_018082.6(POLR3B):c.2809C>T (p.Arg937Ter)
NM_018082.6(POLR3B):c.3184A>G (p.Met1062Val)
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.963T>A (p.Asp321Glu) rs774072453
NM_033026.6(PCLO):c.2532dup (p.Gln845fs) rs1584071201
NM_153816.6(SNX14):c.2764_2770del (p.Leu921_Asp922insTer) rs1064793681
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter) rs1562374476
NM_181503.3(EXOSC8):c.17+1G>T rs1412754843
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro) rs1593709247

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