ClinVar Miner

List of variants studied for complex neurodevelopmental disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_152743.4(BRAT1):c.826G>A (p.Asp276Asn) rs146546197 0.00070
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys) rs138840581 0.00062
NM_152743.4(BRAT1):c.955G>A (p.Val319Ile) rs140903769 0.00034
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter) rs200059198 0.00012
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val) rs763045560 0.00008
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_001365999.1(SZT2):c.670C>T (p.Arg224Trp) rs930525688 0.00004
NM_001365999.1(SZT2):c.9866G>T (p.Gly3289Val) rs371736872 0.00004
NM_001037.5(SCN1B):c.448+100G>T rs779658201 0.00002
NM_001184880.2(PCDH19):c.1210A>G (p.Thr404Ala) rs746891808 0.00002
NM_001099922.3(ALG13):c.2066A>G (p.Tyr689Cys) rs1470650822 0.00001
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr) rs121908245 0.00001
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys) rs1064794263 0.00001
NM_001130438.3(SPTAN1):c.6178G>C (p.Glu2060Gln) rs751423380 0.00001
NM_001184880.2(PCDH19):c.1982A>C (p.Tyr661Ser) rs1928354837 0.00001
NM_001205293.3(CACNA1E):c.2387C>T (p.Ala796Val) rs1320817023 0.00001
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg) rs267608631 0.00001
NM_001393504.1(MAST3):c.3853G>A (p.Glu1285Lys) rs1414358056 0.00001
NM_002641.4(PIGA):c.1177A>G (p.Arg393Gly) rs781095752 0.00001
NM_003705.5(SLC25A12):c.870G>C (p.Glu290Asp) rs757002057 0.00001
NM_006759.4(UGP2):c.34A>G (p.Met12Val) rs768305634 0.00001
NM_015178.3(RHOBTB2):c.779T>C (p.Leu260Pro) rs1018003807 0.00001
NM_016373.4(WWOX):c.500G>A (p.Arg167His) rs377356629 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_172107.4(KCNQ2):c.1382A>C (p.Gln461Pro) rs1057516116 0.00001
NC_000023.11:g.154031853_154031854ins77278664_77280319
NM_000810.4(GABRA5):c.902C>T (p.Thr301Met) rs1595438268
NM_000812.4(GABRB1):c.1243G>C (p.Gly415Arg)
NM_000814.6(GABRB3):c.1052A>G (p.Asn351Ser) rs763319754
NM_000814.6(GABRB3):c.1340C>T (p.Ala447Val)
NM_000814.6(GABRB3):c.929T>G (p.Leu310Arg)
NM_001032221.6(STXBP1):c.1462-2A>C
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys) rs796053373
NM_001032221.6(STXBP1):c.170-2A>G rs1554776674
NM_001032221.6(STXBP1):c.1716C>G (p.Ile572Met)
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_001032221.6(STXBP1):c.37+2dup rs1838431452
NM_001032221.6(STXBP1):c.386_393delinsATCTGA (p.Thr129fs)
NM_001032221.6(STXBP1):c.392C>T (p.Thr131Met) rs2131455010
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_001032221.6(STXBP1):c.794+1G>A rs1554777496
NM_001032221.6(STXBP1):c.795-1G>A rs1554777708
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001040142.2(SCN2A):c.1318G>T (p.Glu440Ter)
NM_001040142.2(SCN2A):c.2189A>T (p.Tyr730Phe)
NM_001040142.2(SCN2A):c.2765G>A (p.Arg922His) rs1057518048
NM_001040142.2(SCN2A):c.4579_4602del (p.Phe1527_Asp1534del) rs2105398203
NM_001040142.2(SCN2A):c.4903C>T (p.Arg1635Ter) rs1064794730
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001040142.2(SCN2A):c.5644C>T (p.Arg1882Ter) rs796053166
NM_001040142.2(SCN2A):c.5750G>A (p.Arg1917Lys) rs2105403810
NM_001040142.2(SCN2A):c.606A>G (p.Ala202=) rs2105244839
NM_001040142.2(SCN2A):c.718G>T (p.Ala240Ser) rs1064795014
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001122955.4(BSCL2):c.446C>G (p.Pro149Arg)
NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln)
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter) rs2058143736
NM_001127222.2(CACNA1A):c.2075A>G (p.Tyr692Cys) rs2057841267
NM_001127222.2(CACNA1A):c.3584C>T (p.Pro1195Leu) rs1568493631
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4328A>G (p.Asp1443Gly) rs2056674575
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.5021del (p.Gly1674fs)
NM_001127222.2(CACNA1A):c.6862del (p.Gln2288fs) rs2144493067
NM_001127222.2(CACNA1A):c.7109G>A (p.Arg2370Gln)
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)
NM_001127222.2(CACNA1A):c.979-3C>G
NM_001130438.3(SPTAN1):c.136T>C (p.Phe46Leu)
NM_001130438.3(SPTAN1):c.1708G>A (p.Ala570Thr) rs2131129868
NM_001130438.3(SPTAN1):c.2881G>A (p.Ala961Thr)
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del) rs587784438
NM_001165963.4(SCN1A):c.1727G>A (p.Ser576Asn) rs1697492585
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn) rs1553525325
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp) rs1691073965
NM_001165963.4(SCN1A):c.5634G>C (p.Glu1878Asp) rs748090629
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys) rs267606933
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg) rs796052819
NM_001184880.2(PCDH19):c.475G>C (p.Gly159Arg)
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter) rs796052837
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter) rs796052802
NM_001205293.3(CACNA1E):c.2603A>G (p.Asp868Gly)
NM_001205293.3(CACNA1E):c.4165C>T (p.Arg1389Ter) rs2102689215
NM_001205293.3(CACNA1E):c.4608C>T (p.Asn1536=) rs2102718155
NM_001205293.3(CACNA1E):c.6581C>G (p.Pro2194Arg)
NM_001271.4(CHD2):c.1244G>T (p.Cys415Phe)
NM_001271.4(CHD2):c.2689G>A (p.Ala897Thr)
NM_001271.4(CHD2):c.2764GAG[2] (p.Glu924del) rs2053946125
NM_001271.4(CHD2):c.3937C>G (p.Arg1313Gly)
NM_001271.4(CHD2):c.4074G>T (p.Glu1358Asp)
NM_001271.4(CHD2):c.4964C>T (p.Pro1655Leu)
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter) rs267608643
NM_001323289.2(CDKL5):c.456_457del (p.Cys152_Asp153delinsTer)
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter) rs1555951146
NM_001330260.2(SCN8A):c.3577C>T (p.Leu1193Phe) rs2138871696
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser) rs1064793263
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.5087T>G (p.Ile1696Ser)
NM_001330260.2(SCN8A):c.971G>A (p.Cys324Tyr) rs2138739035
NM_001365999.1(SZT2):c.5579G>A (p.Gly1860Asp) rs1654050516
NM_001365999.1(SZT2):c.7735C>T (p.Gln2579Ter) rs2153935815
NM_001367561.1(DOCK7):c.4243C>T (p.Arg1415Ter)
NM_001367561.1(DOCK7):c.453dup (p.Gly152fs)
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp) rs1553567473
NM_001382273.1(TNK2):c.3022C>T (p.Gln1008Ter)
NM_002641.4(PIGA):c.1087A>G (p.Ile363Val)
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924
NM_003359.4(UGDH):c.311C>T (p.Ala104Val) rs1420419492
NM_003590.5(CUL3):c.578T>G (p.Leu193Ter) rs2106220962
NM_004341.5(CAD):c.4231A>G (p.Lys1411Glu)
NM_004341.5(CAD):c.5104C>T (p.Pro1702Ser) rs529298259
NM_004408.4(DNM1):c.2510A>C (p.Asn837Thr)
NM_004974.4(KCNA2):c.329C>T (p.Ser110Phe) rs1649507829
NM_004975.4(KCNB1):c.1801G>A (p.Ala601Thr)
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_005249.5(FOXG1):c.1007dup (p.Ser336fs)
NM_005249.5(FOXG1):c.543G>T (p.Lys181Asn) rs767961672
NM_006160.4(NEUROD2):c.355T>C (p.Ser119Pro)
NM_006160.4(NEUROD2):c.517C>A (p.Leu173Ile)
NM_006178.4(NSF):c.1590_1592dup (p.Ser531_Asp532insSer) rs2146261671
NM_006180.6(NTRK2):c.1438G>A (p.Gly480Ser)
NM_006306.4(SMC1A):c.1118A>G (p.Lys373Arg) rs2146604633
NM_006586.5(CNPY3):c.592G>A (p.Val198Met)
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006922.4(SCN3A):c.4484C>T (p.Ala1495Val)
NM_006922.4(SCN3A):c.4811T>C (p.Met1604Thr) rs1685095084
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1286_1287insTAAGC (p.Ser430fs)
NM_012479.4(YWHAG):c.395G>A (p.Arg132His) rs1583981615
NM_014905.5(GLS):c.7C>T (p.Arg3Trp)
NM_015047.3(EMC1):c.2048G>A (p.Gly683Glu) rs2151947387
NM_015047.3(EMC1):c.661C>T (p.Gln221Ter)
NM_015047.3(EMC1):c.698C>T (p.Ala233Val)
NM_015047.3(EMC1):c.820C>T (p.Pro274Ser)
NM_015076.5(CDK19):c.410A>T (p.Asp137Val)
NM_015178.3(RHOBTB2):c.1216A>G (p.Thr406Ala) rs2128804901
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015267.4(CUX2):c.1571C>T (p.Ala524Val)
NM_015267.4(CUX2):c.1945G>A (p.Asp649Asn)
NM_015267.4(CUX2):c.223-1G>A
NM_016373.4(WWOX):c.606-1778_792-2744del
NM_016373.4(WWOX):c.982_998del (p.Tyr328fs)
NM_020706.2(SCAF4):c.749del (p.Pro250fs) rs2123578933
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
NM_020822.3(KCNT1):c.2330G>C (p.Cys777Ser)
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020988.3(GNAO1):c.1021_1023del (p.Asp341del)
NM_020988.3(GNAO1):c.140G>A (p.Ser47Asn) rs1596787821
NM_021072.4(HCN1):c.1139T>A (p.Ile380Asn)
NM_024818.6(UBA5):c.280A>G (p.Arg94Gly)
NM_030948.6(PHACTR1):c.1454A>G (p.Asn485Ser) rs2127468177
NM_031844.3(HNRNPU):c.1028A>G (p.Lys343Arg)
NM_031844.3(HNRNPU):c.325G>C (p.Glu109Gln)
NM_031844.3(HNRNPU):c.421G>A (p.Gly141Arg)
NM_033453.4(ITPA):c.*53C>T
NM_152268.4(PARS2):c.874T>C (p.Cys292Arg) rs779085274
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1787G>C (p.Gly596Ala) rs2145497630
NM_172107.4(KCNQ2):c.2330_2331dup (p.Glu778fs)
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser) rs1064797284
NM_172107.4(KCNQ2):c.829A>G (p.Thr277Ala)
NM_172107.4(KCNQ2):c.835G>A (p.Gly279Ser)
NM_172107.4(KCNQ2):c.856C>G (p.Gln286Glu)
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr) rs1600751236
NM_183381.3(RNF13):c.262A>T (p.Asn88Tyr)
NM_198503.5(KCNT2):c.3289G>A (p.Asp1097Asn)
NM_198503.5(KCNT2):c.433del (p.Ile145fs)
NM_198904.4(GABRG2):c.1061G>T (p.Gly354Val) rs1060501888
NM_198904.4(GABRG2):c.389G>A (p.Ser130Asn) rs1194428749

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