ClinVar Miner

List of variants reported as pathogenic for complex neurodevelopmental disorder by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr) rs121918783
NM_001184880.2(PCDH19):c.1681C>T (p.Pro561Ser) rs1569314471
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter) rs1555444702
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter) rs864309547
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_019066.5(MAGEL2):c.188dup (p.Ala64fs) rs1595334203
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
Single allele

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