ClinVar Miner

List of variants reported as likely pathogenic for complex neurodevelopmental disorder by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282 0.00004
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter) rs730882240 0.00002
NM_000834.5(GRIN2B):c.2429G>A (p.Ser810Asn) rs1591609136
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His) rs1553579488
NM_001042646.3(TRAK1):c.1759dup (p.His587fs) rs1559390743
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) rs1556401714
NM_004974.4(KCNA2):c.1195G>A (p.Val399Met) rs1064794738
NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser) rs1601071085
NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter) rs755138493
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter) rs1555374290

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