ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_016373.4(WWOX):c.173-6T>G rs200812468 0.00004
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter) rs756762196 0.00002
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu) rs121917753
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.726del (p.Gly244fs) rs1064793576
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs) rs2144956340
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser) rs2054721635
NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs) rs2105983330
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) rs794726730
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001170629.2(CHD8):c.727C>T (p.Arg243Ter) rs1555318552
NM_001184880.2(PCDH19):c.1343A>G (p.Asp448Gly) rs1928395285
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs) rs1060502175
NM_001271.4(CHD2):c.1153+3_1153+19del rs2141791104
NM_001271.4(CHD2):c.2767dup (p.Glu923fs) rs2141844219
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001330260.2(SCN8A):c.2633T>C (p.Leu878Pro) rs1942828881
NM_001330260.2(SCN8A):c.4264G>A (p.Ala1422Thr) rs2138908345
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001958.5(EEF1A2):c.1138G>C (p.Asp380His) rs2082366378
NM_003705.5(SLC25A12):c.1490T>A (p.Ile497Asn) rs2105837590
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004974.4(KCNA2):c.906T>G (p.Phe302Leu) rs764822052
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) rs267606826
NM_006306.4(SMC1A):c.2122del (p.Leu708fs) rs2146599339
NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly) rs2037954227
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile) rs2080906453
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs) rs796052657
NM_172107.4(KCNQ2):c.26G>A (p.Gly9Asp)
NM_172107.4(KCNQ2):c.286C>A (p.His96Asn) rs2082232988
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala) rs2081188385
NM_173495.3(PTCHD1):c.898G>C (p.Gly300Arg) rs1922524280

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