ClinVar Miner

List of variants studied 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: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01112
NM_000330.4(RS1):c.326+1131G>A rs267608664 0.00004
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) rs915676341 0.00001
NM_001184880.2(PCDH19):c.1549G>A (p.Ala517Thr) rs778072039 0.00001
NM_001330260.2(SCN8A):c.160A>C (p.Lys54Gln) rs755721954 0.00001
NM_000814.6(GABRB3):c.733T>C (p.Tyr245His) rs1890229646
NM_001032221.6(STXBP1):c.1217G>T (p.Arg406Leu) rs886041246
NM_001032221.6(STXBP1):c.1588G>T (p.Glu530Ter) rs756998073
NM_001032221.6(STXBP1):c.430G>T (p.Val144Phe) rs1211863124
NM_001032221.6(STXBP1):c.784G>T (p.Asp262Tyr) rs1841290957
NM_001040142.2(SCN2A):c.1036C>T (p.Gln346Ter) rs201798537
NM_001040142.2(SCN2A):c.1058G>C (p.Cys353Ser) rs1697566111
NM_001040142.2(SCN2A):c.1255T>A (p.Leu419Met) rs1697584614
NM_001040142.2(SCN2A):c.2501G>A (p.Ser834Asn) rs1699364791
NM_001040142.2(SCN2A):c.3850-2A>G rs1701136915
NM_001040142.2(SCN2A):c.4461C>A (p.Asp1487Glu) rs1553462203
NM_001040142.2(SCN2A):c.4732T>G (p.Cys1578Gly) rs1701904705
NM_001040142.2(SCN2A):c.4832T>C (p.Leu1611Pro) rs1701999328
NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile) rs398122394
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_001127644.2(GABRA1):c.406G>T (p.Ala136Ser) rs1754201918
NM_001165963.4(SCN1A):c.1164delinsGG (p.Tyr388Ter) rs1697997770
NM_001165963.4(SCN1A):c.4007T>G (p.Val1336Gly) rs1691097432
NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu) rs1573984236
NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys) rs1573984110
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.5546T>C (p.Leu1849Pro) rs1689186812
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro) rs1689139851
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.178G>C (p.Glu60Gln) rs1925262394
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.290T>C (p.Leu97Pro) rs1925418549
NM_001323289.2(CDKL5):c.349dup (p.Tyr117fs) rs1925420814
NM_001323289.2(CDKL5):c.422T>C (p.Leu141Pro) rs1925493091
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.65G>C (p.Gly22Ala) rs1602232972
NM_001323289.2(CDKL5):c.744+1G>A rs1925705674
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001330260.2(SCN8A):c.2248G>A (p.Val750Ile) rs1942594128
NM_001330260.2(SCN8A):c.2668G>C (p.Ala890Pro) rs879255702
NM_001330260.2(SCN8A):c.4443_4444delinsTG (p.Met1481_Thr1482delinsIleAla) rs1938214882
NM_001330260.2(SCN8A):c.4924T>C (p.Phe1642Leu) rs1938703650
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001371246.1(SCN2A):c.623T>C (p.Val208Ala) rs1697298069
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val) rs1601071099
NM_004975.4(KCNB1):c.1594A>G (p.Met532Val) rs1984228484
NM_006586.5(CNPY3):c.362G>A (p.Arg121Gln) rs761023974
NM_006586.5(CNPY3):c.628C>T (p.Gln210Ter) rs1768394971
NM_020822.3(KCNT1):c.1885A>C (p.Lys629Gln) rs1057522978
NM_020988.3(GNAO1):c.731T>A (p.Met244Lys) rs2037919953
NM_139058.3(ARX):c.1589C>G (p.Ser530Cys) rs2048669628
NM_172107.4(KCNQ2):c.1149-2A>G rs2080696874
NM_172107.4(KCNQ2):c.581C>T (p.Thr194Ile) rs2081362775

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.