ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_005458.8(GABBR2):c.68T>C (p.Leu23Pro) rs933385444 0.00012
NM_001182.5(ALDH7A1):c.589C>T (p.Pro197Ser) rs779652673 0.00003
NM_000807.4(GABRA2):c.855del (p.Phe285fs) rs2109626303
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter) rs1595445975
NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu)
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro) rs1948653017
NM_000834.5(GRIN2B):c.2560del (p.Cys854fs)
NM_000834.5(GRIN2B):c.2749T>G (p.Ser917Ala) rs2136406174
NM_000834.5(GRIN2B):c.3028C>T (p.Pro1010Ser)
NM_000836.4(GRIN2D):c.2008C>T (p.Leu670Phe) rs1600982189
NM_001032221.6(STXBP1):c.122T>A (p.Leu41Gln)
NM_001032221.6(STXBP1):c.1427C>A (p.Ser476Ter) rs1564355614
NM_001032221.6(STXBP1):c.1461+1G>T
NM_001032221.6(STXBP1):c.1492dup (p.His498fs) rs1564356269
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val) rs121918317
NM_001032221.6(STXBP1):c.1656C>A (p.Cys552Ter) rs942940725
NM_001032221.6(STXBP1):c.25delinsCT (p.Val9fs) rs2132275633
NM_001032221.6(STXBP1):c.260_261dup (p.Ile88fs)
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu)
NM_001037333.3(CYFIP2):c.2066A>G (p.Glu689Gly) rs1761011834
NM_001037343.1:c.100-?_744+?dup
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
NM_001040142.2(SCN2A):c.1600A>T (p.Arg534Ter)
NM_001040142.2(SCN2A):c.3780G>C (p.Lys1260Asn) rs763442348
NM_001040142.2(SCN2A):c.4343_4346dup (p.Met1449fs)
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4954G>C (p.Ala1652Pro)
NM_001040142.2(SCN2A):c.5231G>A (p.Gly1744Glu)
NM_001040142.2(SCN2A):c.5306A>G (p.Asn1769Ser)
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5597T>C (p.Leu1866Ser)
NM_001040142.2(SCN2A):c.5616G>C (p.Met1872Ile)
NM_001040142.2(SCN2A):c.605+1G>A
NM_001099922.3(ALG13):c.298A>G (p.Ile100Val)
NM_001110792.2(MECP2):c.1089_*2300del (p.Pro363_Ter499delinsXaa)
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) rs1557135315
NM_001110792.2(MECP2):c.1198C>A (p.Pro400Thr) rs61753000
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) rs786205042
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.752C>A (p.Ala251Asp) rs1557136591
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2812_2813del (p.Gly938fs)
NM_001127222.2(CACNA1A):c.3637G>A (p.Gly1213Ser) rs767000559
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs) rs2144524434
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.643C>A (p.Leu215Ile) rs1554086436
NM_001127644.2(GABRA1):c.787A>G (p.Met263Val) rs1561584736
NM_001130438.3(SPTAN1):c.6406G>C (p.Glu2136Gln) rs755273355
NM_001130438.3(SPTAN1):c.980T>C (p.Leu327Pro) rs1851427709
NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro) rs1698009615
NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) rs794726799
NM_001165963.4(SCN1A):c.1489del (p.Arg497fs) rs1697667767
NM_001165963.4(SCN1A):c.2393_2404del (p.Asn798_Val802delinsIle) rs1697127484
NM_001165963.4(SCN1A):c.2680dup (p.Thr894fs) rs1696660743
NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr) rs1696624989
NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys) rs61741123
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe) rs1690574155
NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val) rs2105476084
NM_001165963.4(SCN1A):c.4477-3T>A rs1690013843
NM_001165963.4(SCN1A):c.4582-2A>G rs2105449932
NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly) rs1573953030
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5249del (p.Ser1750fs) rs2105430494
NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter) rs1553520103
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.758T>C (p.Leu253Pro) rs2105890296
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs)
NM_001184880.2(PCDH19):c.1240G>T (p.Glu414Ter)
NM_001184880.2(PCDH19):c.1919T>C (p.Leu640Pro) rs1928358562
NM_001184880.2(PCDH19):c.2531_2540del (p.Ser844fs)
NM_001184880.2(PCDH19):c.2555_2556del (p.Ser852fs) rs1928217668
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001184880.2(PCDH19):c.600_603dup (p.Ser202fs) rs2147541270
NM_001184880.2(PCDH19):c.745del (p.Glu249fs)
NM_001184880.2(PCDH19):c.971del (p.Asn324fs)
NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val) rs1558308998
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001271.4(CHD2):c.2612G>A (p.Gly871Asp)
NM_001271.4(CHD2):c.2707A>G (p.Arg903Gly)
NM_001271.4(CHD2):c.2892T>G (p.Asn964Lys)
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
NM_001271.4(CHD2):c.4003G>T (p.Glu1335Ter) rs1246923304
NM_001271.4(CHD2):c.4109A>G (p.Asp1370Gly) rs2141871764
NM_001271.4(CHD2):c.827C>T (p.Ala276Val)
NM_001323289.2(CDKL5):c.1099C>T (p.Leu367=) rs1602286005
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn) rs1602263431
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1976_1977del (p.Val659fs) rs2147164191
NM_001323289.2(CDKL5):c.2276+1G>A rs1602292181
NM_001323289.2(CDKL5):c.354_361del (p.Leu119fs) rs1925421198
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe) rs1569213917
NM_001323289.2(CDKL5):c.898_899del (p.Gln300fs) rs1602282699
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.3307T>A (p.Ser1103Thr)
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr) rs794727361
NM_001330260.2(SCN8A):c.4408C>A (p.Gln1470Lys)
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.5594T>C (p.Leu1865Pro)
NM_001330260.2(SCN8A):c.761T>G (p.Val254Gly) rs2138735599
NM_001353921.2(ARHGEF9):c.1078-3T>G
NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter)
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001958.5(EEF1A2):c.821C>T (p.Pro274Leu)
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser) rs1553798675
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_005249.5(FOXG1):c.1219G>C (p.Val407Leu) rs1287203413
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.763T>A (p.Trp255Arg)
NM_006922.4(SCN3A):c.4213G>T (p.Ala1405Ser) rs768382383
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015267.4(CUX2):c.760G>A (p.Glu254Lys) rs1886461979
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020822.3(KCNT1):c.2341C>G (p.Leu781Val)
NM_020822.3(KCNT1):c.2678A>T (p.Glu893Val)
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
NM_020822.3(KCNT1):c.3407A>G (p.Gln1136Arg)
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020988.3(GNAO1):c.509C>G (p.Pro170Arg)
NM_020988.3(GNAO1):c.607G>A (p.Gly203Arg)
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
NM_031844.3(HNRNPU):c.1173_1174del (p.Cys391_Glu392delinsTer)
NM_031844.3(HNRNPU):c.1320_1321del (p.Gly441fs) rs2102986721
NM_031844.3(HNRNPU):c.2425-2A>T rs1553281924
NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter) rs2145922320
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
NM_172107.4(KCNQ2):c.739T>C (p.Ser247Pro)
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390
NM_172107.4(KCNQ2):c.926C>T (p.Ala309Val)
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser) rs1568925719

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