ClinVar Miner

List of variants reported as pathogenic for complex neurodevelopmental disorder by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.2053A>C (p.Thr685Pro) rs869312669
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His) rs796053361
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001040142.2(SCN2A):c.4468A>G (p.Met1490Val) rs869312663
NM_001040142.2(SCN2A):c.4726G>A (p.Gly1576Arg) rs869312664
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.63-6C>G rs267608411
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3704del (p.Leu1235fs) rs869312670
NM_001165963.4(SCN1A):c.4002+2451G>C rs869312684
NM_001271.4(CHD2):c.1552del (p.Gln518fs) rs869312705
NM_001271.4(CHD2):c.3787dup (p.Val1263fs) rs869312877
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004408.4(DNM1):c.139G>A (p.Val47Met) rs869312702
NM_005249.5(FOXG1):c.460del (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.821G>A (p.Arg274Gln) rs869312700
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys) rs886041091
NM_015176.4(FBXO28):c.1016_1017delinsT (p.Gly339fs)
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019066.5(MAGEL2):c.2958del (p.Ser987fs) rs1060499934
NM_019066.5(MAGEL2):c.3208G>T (p.Glu1070Ter) rs869312694
NM_022786.3(ARV1):c.518dup (p.Pro174fs) rs544784472
NM_031844.3(HNRNPU):c.651_660dup (p.Gly221fs) rs779453109
NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs) rs869312662
NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro) rs886041262
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212

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