ClinVar Miner

List of variants reported as pathogenic for complex neurodevelopmental disorder by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001032221.6(STXBP1):c.1588G>T (p.Glu530Ter) rs756998073
NM_001040142.2(SCN2A):c.1036C>T (p.Gln346Ter) rs201798537
NM_001040142.2(SCN2A):c.3850-2A>G rs1701136915
NM_001165963.4(SCN1A):c.1164delinsGG (p.Tyr388Ter) rs1697997770
NM_001165963.4(SCN1A):c.4789_4792del (p.His1597fs) rs1689680658
NM_001165963.4(SCN1A):c.5087del (p.Lys1696fs) rs1689309551
NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter) rs1574281711
NM_001165963.4(SCN1A):c.591del (p.Ile198fs) rs1698941202
NM_001165963.4(SCN1A):c.689_690insG (p.Ile230fs) rs1698732089
NM_001184880.2(PCDH19):c.1133C>G (p.Ser378Ter) rs1555985301
NM_001184880.2(PCDH19):c.1713_1719dup (p.Glu574fs) rs1928369132
NM_001184880.2(PCDH19):c.1973delinsGTA (p.Val658fs) rs1928355133
NM_001184880.2(PCDH19):c.2556_2559del (p.Phe853fs) rs1928217378
NM_001184880.2(PCDH19):c.2567dup (p.Pro858fs) rs1928216298
NM_001184880.2(PCDH19):c.2740C>T (p.Gln914Ter) rs1926264984
NM_001184880.2(PCDH19):c.565G>T (p.Glu189Ter) rs1602637696
NM_001184880.2(PCDH19):c.615del (p.Phe206fs) rs1928445406
NM_001184880.2(PCDH19):c.820_847del (p.Val274fs) rs1928424443
NM_001323289.2(CDKL5):c.1486A>T (p.Lys496Ter) rs1926283887
NM_001323289.2(CDKL5):c.1852_1853insT (p.Asp618fs) rs1926303951
NM_001323289.2(CDKL5):c.2182del (p.His728fs) rs1926616715
NM_001323289.2(CDKL5):c.2355_2358del (p.Lys786fs) rs1926837956
NM_001323289.2(CDKL5):c.2673_2682del (p.Gln891fs) rs1927142990
NM_001323289.2(CDKL5):c.349dup (p.Tyr117fs) rs1925420814
NM_001323289.2(CDKL5):c.463+1G>T rs267608479
NM_001323289.2(CDKL5):c.495dup (p.Ala166fs) rs1925573011
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001323289.2(CDKL5):c.64+1G>C rs1922607301
NM_001323289.2(CDKL5):c.744+1G>A rs1925705674
NM_001330260.2(SCN8A):c.4443_4444delinsTG (p.Met1481_Thr1482delinsIleAla) rs1938214882
NM_172107.4(KCNQ2):c.1149-2A>G rs2080696874

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