ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val) rs188762916 0.00109
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys) rs145833100 0.00079
NM_001365999.1(SZT2):c.2812G>A (p.Ala938Thr) rs143880787 0.00034
NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe) rs148150960 0.00031
NM_003705.5(SLC25A12):c.1171+17C>G rs370591049 0.00014
NM_001130438.3(SPTAN1):c.4046G>A (p.Arg1349Gln) rs149367932 0.00006
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315 0.00006
NM_001127222.2(CACNA1A):c.3989+11T>C rs762686149 0.00004
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln) rs768048563 0.00003
NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys) rs200531434 0.00003
NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly) rs759661460 0.00003
NM_172107.4(KCNQ2):c.691-5C>T rs886056921 0.00003
NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro) rs2054687187 0.00002
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val) rs771906889 0.00002
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met) rs1005844306 0.00002
NM_203446.3(SYNJ1):c.803G>A (p.Arg268His) rs201796096 0.00002
NM_001271.4(CHD2):c.3367G>T (p.Val1123Leu) rs1295966448 0.00001
NM_001323289.2(CDKL5):c.403+5G>A rs1342864362 0.00001
NM_004204.5(PIGQ):c.690-2A>G rs587777543 0.00001
NM_004667.6(HERC2):c.5351G>A (p.Arg1784His) rs1377524842 0.00001
NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met) rs1009967374 0.00001
NM_006586.5(CNPY3):c.734_737del (p.Gln245fs) rs1197219692 0.00001
NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu) rs964772041 0.00001
NM_020988.3(GNAO1):c.723+4106A>G rs1437835350 0.00001
NM_033453.4(ITPA):c.302A>G (p.His101Arg) rs928104127 0.00001
NM_203446.3(SYNJ1):c.2505C>A (p.Ser835Arg) rs748032685 0.00001
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)
GRCh37/hg19 3q29(chr3:195457650-196263123)
GRCh37/hg19 7q21.13-21.2(chr7:90054667-91313448)
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)
GRCh37/hg19 8p23.3-23.1(chr8:194617-6816918)
GRCh37/hg19 Xp22.31(chrX:6488721-8097511)
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_000814.6(GABRB3):c.461+15T>G rs1892473260
NM_001100913.3(PACS2):c.1381G>A (p.Asp461Asn) rs2081012243
NM_001100913.3(PACS2):c.2218T>A (p.Ser740Thr) rs2081364319
NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro) rs2058520816
NM_001127222.2(CACNA1A):c.1555+3_1555+6del rs2058143459
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter) rs2057372365
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile) rs779292782
NM_001127222.2(CACNA1A):c.4089+18T>G rs1600198282
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127644.2(GABRA1):c.1108C>T (p.Pro370Ser) rs1424508480
NM_001130438.3(SPTAN1):c.1456C>G (p.Gln486Glu) rs1455085342
NM_001130438.3(SPTAN1):c.3196A>G (p.Met1066Val) rs764844675
NM_001130438.3(SPTAN1):c.364-3C>G rs1851102695
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001184880.2(PCDH19):c.1036A>G (p.Ile346Val) rs1928413482
NM_001184880.2(PCDH19):c.1069G>C (p.Glu357Gln) rs868697675
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001205293.3(CACNA1E):c.2105C>T (p.Ala702Val) rs1654707104
NM_001205293.3(CACNA1E):c.6605G>A (p.Ser2202Asn) rs1662014050
NM_001271.4(CHD2):c.3734+20A>G rs765676490
NM_001271.4(CHD2):c.4845G>C (p.Gln1615His) rs1427359303
NM_001271.4(CHD2):c.4963C>A (p.Pro1655Thr) rs2054514484
NM_001271.4(CHD2):c.692+10A>G rs370469675
NM_001330260.2(SCN8A):c.197C>A (p.Pro66His) rs1940955829
NM_001330260.2(SCN8A):c.2617G>T (p.Gly873Cys) rs1942828530
NM_001330260.2(SCN8A):c.5047G>A (p.Asp1683Asn) rs1023188648
NM_001353921.2(ARHGEF9):c.652C>G (p.Leu218Val) rs2050412325
NM_001365999.1(SZT2):c.772+5G>A rs1651690924
NM_002487.3(NDN):c.212A>G (p.Gln71Arg) rs1891161078
NM_002487.3(NDN):c.472dup (p.Thr158fs) rs1891151702
NM_004171.4(SLC1A2):c.1046C>T (p.Ala349Val) rs1851035772
NM_004171.4(SLC1A2):c.609G>C (p.Glu203Asp) rs1851499526
NM_004341.5(CAD):c.5545_5546del (p.Phe1849fs) rs1676249686
NM_004667.6(HERC2):c.11701-1G>A rs1891259083
NM_005249.5(FOXG1):c.254C>G (p.Pro85Arg) rs1822450268
NM_005249.5(FOXG1):c.998C>T (p.Ala333Val) rs1322496307
NM_015570.4(AUTS2):c.3377ACC[9] (p.His1133dup) rs538005366
NM_016373.4(WWOX):c.16T>C (p.Tyr6His) rs1239497096
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter) rs759766243
NM_016373.4(WWOX):c.517C>T (p.His173Tyr) rs777272586
NM_016373.4(WWOX):c.791+18A>T rs1023123497
NM_016373.4(WWOX):c.918del (p.Glu306fs) rs1057518795
NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer) rs1890356742
NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu) rs1267004913
NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del) rs779748148
NM_020708.5(SLC12A5):c.1689-7G>A rs2084595386
NM_031844.3(HNRNPU):c.465G>T (p.Glu155Asp) rs776778115
NM_031844.3(HNRNPU):c.470G>A (p.Gly157Glu) rs1195258707
NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg) rs1057518772
NM_172107.4(KCNQ2):c.1828G>A (p.Glu610Lys) rs1350422852
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu) rs762130930
NM_172107.4(KCNQ2):c.199C>T (p.Pro67Ser) rs972841085
NM_172107.4(KCNQ2):c.2245G>A (p.Glu749Lys) rs796052658
NM_172107.4(KCNQ2):c.2272_2286del (p.Gly758_Ser762del) rs2079961255
NM_172107.4(KCNQ2):c.2474C>G (p.Ala825Gly) rs1568858969
NM_173354.5(SIK1):c.1430T>G (p.Val477Gly) rs2081044918
NM_198904.4(GABRG2):c.787T>C (p.Ser263Pro) rs1764617485
NM_203446.3(SYNJ1):c.1625T>G (p.Val542Gly) rs2041281036

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