ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs) rs749240175 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_001323289.2(CDKL5):c.176G>A (p.Arg59Gln) rs1555949009 0.00001
NC_000009.11:g.(?_131382516)_(131393966_?)del
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg) rs1889966043
NM_000834.5(GRIN2B):c.2555G>C (p.Gly852Ala) rs1168374610
NM_000834.5(GRIN2B):c.2684_2685del (p.His895fs)
NM_001032221.6(STXBP1):c.325+2_325+3del rs1554776853
NM_001037333.3(CYFIP2):c.2095G>T (p.Asp699Tyr) rs1581069143
NM_001037333.3(CYFIP2):c.2096A>G (p.Asp699Gly) rs1581069148
NM_001040142.2(SCN2A):c.1A>T (p.Met1Leu) rs1553564139
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter) rs796053138
NM_001040142.2(SCN2A):c.4437G>C (p.Gln1479His) rs2105384764
NM_001040142.2(SCN2A):c.781G>T (p.Val261Leu) rs1057520413
NM_001040142.2(SCN2A):c.882del (p.Phe295fs) rs1553568045
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.1200_1235delinsT (p.Pro401fs) rs1557135346
NM_001110792.2(MECP2):c.1209_*6del (p.Glu404fs) rs2148658325
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2752G>T (p.Gly918Cys) rs2144955129
NM_001127222.2(CACNA1A):c.4534A>G (p.Thr1512Ala)
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln) rs775157869
NM_001165963.4(SCN1A):c.2415+2T>C rs1574201555
NM_001184880.2(PCDH19):c.2143dup (p.Cys715fs)
NM_001271.4(CHD2):c.3780dup (p.Trp1261fs) rs2054200651
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter) rs1556358991
NM_001353921.2(ARHGEF9):c.971C>T (p.Ser324Leu) rs1602300014
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp) rs1553567473
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn) rs886041197
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_004204.5(PIGQ):c.1345G>C (p.Gly449Arg) rs1361495767
NM_004408.4(DNM1):c.431C>T (p.Pro144Leu) rs1588352395
NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala) rs1570752696
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) rs1555889108
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) rs959316981
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu) rs1569017015
NM_005249.5(FOXG1):c.256dup (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.821G>C (p.Arg274Pro) rs869312700
NM_014905.5(GLS):c.1270T>C (p.Cys424Arg)
NM_020822.3(KCNT1):c.1406A>T (p.His469Leu) rs1554774322
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu) rs1057522978
NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg) rs886041715
NM_020988.3(GNAO1):c.57T>G (p.Ile19Met)
NM_021072.4(HCN1):c.414del (p.Pro137_Tyr138insTer) rs1554040120
NM_031844.3(HNRNPU):c.2425-2A>G rs1553281924
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_152743.4(BRAT1):c.803G>A (p.Arg268His) rs1131691679
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172107.4(KCNQ2):c.838T>C (p.Tyr280His) rs2081102604
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro) rs587777578

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