ClinVar Miner

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

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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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
NC_000009.11:g.(?_131382516)_(131393966_?)del
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.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_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_001371246.1(SCN2A):c.634A>G (p.Asn212Asp) rs1553567473
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn) rs886041197
NM_004974.4(KCNA2):c.1223T>C (p.Val408Ala) rs1570752696
NM_004975.4(KCNB1):c.1248C>A (p.Phe416Leu) rs1569017015
NM_005249.5(FOXG1):c.256dup (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.821G>C (p.Arg274Pro) rs869312700
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

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