ClinVar Miner

List of variants reported as likely pathogenic for complex neurodevelopmental disorder by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_007254.4(PNKP):c.968C>T (p.Thr323Met) rs372148913 0.00005
NM_001365999.1(SZT2):c.654_655del (p.Asp220fs) rs756942804 0.00001
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_001032221.6(STXBP1):c.433T>C (p.Tyr145His) rs587784455
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_001040142.2(SCN2A):c.4435C>A (p.Gln1479Lys) rs1553462134
NM_001040142.2(SCN2A):c.4841T>C (p.Leu1614Pro) rs797045943
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu) rs1554769022
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile) rs587784299
NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg) rs587783084
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser) rs267608532
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr) rs1555225794
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu) rs587780454
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_005249.5(FOXG1):c.563C>G (p.Ala188Gly) rs587783638
NM_005249.5(FOXG1):c.644_645delinsCT (p.Phe215Ser) rs786204998
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.685A>C (p.Ile229Leu) rs1064797186
NM_005249.5(FOXG1):c.713G>A (p.Cys238Tyr) rs1555321337
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val) rs587783640
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser) rs587783643
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile) rs1555499800
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val) rs797045638

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