ClinVar Miner

List of variants studied for electroclinical syndrome by Mendelics

Included ClinVar conditions (101):
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ClinVar version:
Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_173354.5(SIK1):c.1844C>T (p.Ala615Val) rs430554 0.85362
NM_005076.5(CNTN2):c.1097C>T (p.Pro366Leu) rs2229866 0.36917
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val) rs139795367 0.00042
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369 0.00008
NM_000330.4(RS1):c.522+5G>A rs200074383 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320 0.00004
NM_001134407.3(GRIN2A):c.1510C>T (p.Arg504Trp) rs1360906241 0.00003
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met) rs779953123 0.00002
NM_000330.4(RS1):c.185-3176C>T rs747799506 0.00001
NM_001040142.2(SCN2A):c.3461G>A (p.Gly1154Glu) rs995379212 0.00001
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val) rs781204054 0.00001
NM_001130438.3(SPTAN1):c.5433C>G (p.His1811Gln) rs772382171 0.00001
NM_001134407.3(GRIN2A):c.869C>T (p.Ala290Val) rs199528312 0.00001
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645 0.00001
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter) rs786205162 0.00001
NM_000814.6(GABRB3):c.146A>G (p.Asp49Gly) rs2140199587
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter) rs1595445975
NM_001040142.2(SCN2A):c.121C>T (p.Arg41Cys) rs747086776
NM_001040142.2(SCN2A):c.1271T>G (p.Val424Gly) rs796053181
NM_001040142.2(SCN2A):c.1384-2A>G rs1574571769
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter) rs1553579225
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr) rs1574641522
NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu) rs1574641605
NM_001040142.2(SCN2A):c.2725G>A (p.Glu909Lys) rs1553579374
NM_001040142.2(SCN2A):c.2854G>T (p.Glu952Ter) rs1553579543
NM_001040142.2(SCN2A):c.3209dup (p.Asp1070fs) rs2105337298
NM_001040142.2(SCN2A):c.3399+1del rs2105337639
NM_001040142.2(SCN2A):c.3664A>C (p.Ser1222Arg) rs1574697769
NM_001040142.2(SCN2A):c.3997G>T (p.Ala1333Ser) rs796053132
NM_001040142.2(SCN2A):c.4243C>A (p.Leu1415Ile) rs1574716524
NM_001040142.2(SCN2A):c.4316T>G (p.Leu1439Ter) rs2105384553
NM_001040142.2(SCN2A):c.4517C>G (p.Ser1506Ter) rs1287017958
NM_001040142.2(SCN2A):c.4635G>C (p.Met1545Ile) rs1574746733
NM_001040142.2(SCN2A):c.4635G>T (p.Met1545Ile) rs1574746733
NM_001040142.2(SCN2A):c.4688T>G (p.Leu1563Arg) rs1574746935
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001040142.2(SCN2A):c.4913G>C (p.Arg1638Pro) rs1702006258
NM_001040142.2(SCN2A):c.507del (p.Glu169fs) rs1574554892
NM_001040142.2(SCN2A):c.5113A>C (p.Ile1705Leu) rs1574752113
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile) rs1574752700
NM_001040142.2(SCN2A):c.5918C>G (p.Pro1973Arg) rs1574754680
NM_001040142.2(SCN2A):c.634A>G (p.Asn212Asp) rs2105244906
NM_001040142.2(SCN2A):c.638T>C (p.Val213Ala) rs1574556643
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001127644.2(GABRA1):c.559T>G (p.Tyr187Asp) rs2113389254
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6905_6946dup (p.Leu2302_Gln2315dup) rs2132089818
NM_001134407.3(GRIN2A):c.1328A>G (p.Asn443Ser) rs1596494610
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu) rs751455326
NM_001134407.3(GRIN2A):c.250A>T (p.Thr84Ser) rs1006328489
NM_001134407.3(GRIN2A):c.314A>G (p.Asp105Gly) rs797045015
NM_001134407.3(GRIN2A):c.3317_3318insTTTTTTTTTTAAT (p.Lys1107fs) rs1419346546
NM_001134407.3(GRIN2A):c.3320A>T (p.Lys1107Ile) rs1185300490
NM_001134407.3(GRIN2A):c.3321_3322insCGGCG (p.Thr1108fs) rs1215972111
NM_001134407.3(GRIN2A):c.3339_3342del (p.Arg1114fs) rs1379582796
NM_001134407.3(GRIN2A):c.3345_3347del (p.Asp1115_Lys1116delinsGlu) rs1440127051
NM_001134407.3(GRIN2A):c.3G>T (p.Met1Ile) rs868762895
NM_001134407.3(GRIN2A):c.4320del (p.Thr1441fs) rs2141124790
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg) rs1596427970
NM_001271.4(CHD2):c.3187G>T (p.Glu1063Ter) rs1596436494
NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter) rs767106034
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs) rs752940775
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer) rs748694853
NM_001323289.2(CDKL5):c.1431_1435dup (p.Ser479fs) rs1602286391
NM_001323289.2(CDKL5):c.145+1G>A rs2147132274
NM_001323289.2(CDKL5):c.1548C>A (p.Tyr516Ter) rs751789670
NM_001323289.2(CDKL5):c.1691A>G (p.His564Arg) rs1602286720
NM_001323289.2(CDKL5):c.1742dup (p.His581fs) rs1602286792
NM_001323289.2(CDKL5):c.1816C>T (p.Gln606Ter) rs1602286899
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys) rs1602269367
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter) rs1602298653
NM_001323289.2(CDKL5):c.2716C>T (p.Gln906Ter) rs863225289
NM_001323289.2(CDKL5):c.280A>T (p.Lys94Ter) rs2147139684
NM_001323289.2(CDKL5):c.349_352del (p.Tyr117fs) rs2147142645
NM_001323289.2(CDKL5):c.353A>G (p.Gln118Arg) rs863225290
NM_001323289.2(CDKL5):c.364G>A (p.Ala122Thr) rs1602271692
NM_001323289.2(CDKL5):c.386del (p.Asn129fs) rs1602271718
NM_001323289.2(CDKL5):c.425T>G (p.Leu142Ter) rs267608477
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys) rs2147145573
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_001323289.2(CDKL5):c.620G>T (p.Gly207Val) rs2147148055
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001323289.2(CDKL5):c.825+1dup rs1602280455
NM_001323289.2(CDKL5):c.906del (p.Leu303fs) rs2147156191
NM_001323289.2(CDKL5):c.978-1G>A rs2147160087
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser) rs1131692025
NM_004408.4(DNM1):c.985C>G (p.Leu329Val) rs868772525
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_016373.4(WWOX):c.*187_*190dup rs1597489135
NM_016373.4(WWOX):c.107+1G>A rs1300924648
NM_016373.4(WWOX):c.136C>T (p.His46Tyr) rs1597207871
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr) rs11545029
NM_016373.4(WWOX):c.705dup (p.His236fs) rs1597216056
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1369_1391del (p.Gly457fs) rs1601946502
NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del) rs1601946492
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_172107.4(KCNQ2):c.1050C>A (p.Asn350Lys) rs1371059392
NM_172107.4(KCNQ2):c.1118+1G>A rs397507449
NM_172107.4(KCNQ2):c.1149-1G>T rs1600714727
NM_172107.4(KCNQ2):c.1632-1G>T rs118192233
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.1956dup (p.Thr653fs) rs1601545088
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu) rs762130930
NM_172107.4(KCNQ2):c.3G>A (p.Met1Ile) rs866273848
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.613A>G (p.Ile205Val) rs1057516087
NM_172107.4(KCNQ2):c.617T>C (p.Leu206Pro) rs1339542565
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.638G>T (p.Arg213Leu) rs397514581
NM_172107.4(KCNQ2):c.649A>C (p.Thr217Pro) rs1057516089
NM_172107.4(KCNQ2):c.696_698dup (p.Val233dup) rs1600767259
NM_172107.4(KCNQ2):c.700A>G (p.Thr234Ala) rs1057516091
NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val) rs796052630
NM_172107.4(KCNQ2):c.761A>C (p.Glu254Ala) rs794727739
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_198904.4(GABRG2):c.1A>G (p.Met1Val) rs1581275976
NM_198904.4(GABRG2):c.929C>G (p.Thr310Ser) rs2113632484

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