ClinVar Miner

List of variants studied for electroclinical syndrome by New York Genome Center

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479 0.00017
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp) rs527295360 0.00013
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596 0.00011
NM_021098.3(CACNA1H):c.3643C>T (p.Arg1215Cys) rs756154211 0.00009
NM_021098.3(CACNA1H):c.5818G>C (p.Ala1940Pro) rs61742096 0.00009
NM_018100.4(EFHC1):c.89C>T (p.Thr30Met) rs200435907 0.00008
NM_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp) rs115231482 0.00006
NM_001134407.3(GRIN2A):c.1008-22395A>T rs909654359 0.00006
NM_020151.4(STARD7):c.418C>T (p.Arg140Cys) rs181733184 0.00006
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_020151.4(STARD7):c.361C>T (p.Pro121Ser) rs200880792 0.00005
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln) rs370754278 0.00004
NM_005076.5(CNTN2):c.2196+5G>A rs747164379 0.00004
NM_021098.3(CACNA1H):c.412G>A (p.Ala138Thr) rs931243903 0.00004
NM_021098.3(CACNA1H):c.721T>G (p.Phe241Val) rs56900494 0.00004
NM_173354.5(SIK1):c.1571C>T (p.Pro524Leu) rs765573579 0.00004
NM_021098.3(CACNA1H):c.1223T>C (p.Phe408Ser) rs760258010 0.00003
NM_021098.3(CACNA1H):c.2003-6C>T rs1435574238 0.00003
NM_021098.3(CACNA1H):c.6262G>A (p.Gly2088Arg) rs779925007 0.00003
NM_000834.5(GRIN2B):c.2627C>T (p.Ala876Val) rs1458368988 0.00001
NM_000834.5(GRIN2B):c.3111C>A (p.Asp1037Glu) rs754878801 0.00001
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732 0.00001
NM_001040142.2(SCN2A):c.386+3535C>A rs891087983 0.00001
NM_001040142.2(SCN2A):c.970+6A>T rs371629371 0.00001
NM_001130438.3(SPTAN1):c.3667G>A (p.Glu1223Lys) rs773140619 0.00001
NM_001330260.2(SCN8A):c.5613G>C (p.Glu1871Asp) rs1230372504 0.00001
NM_004171.4(SLC1A2):c.877G>A (p.Ala293Thr) rs956332291 0.00001
NM_004408.4(DNM1):c.1558-3C>T rs546517702 0.00001
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His) rs1204519015 0.00001
NM_004519.4(KCNQ3):c.387-19849G>A rs991514927 0.00001
NM_021098.3(CACNA1H):c.1585T>C (p.Tyr529His) rs1230959391 0.00001
NM_021098.3(CACNA1H):c.2743G>A (p.Val915Met) rs762600701 0.00001
NM_021098.3(CACNA1H):c.4789C>T (p.Arg1597Trp) rs747598216 0.00001
NM_021098.3(CACNA1H):c.5917G>A (p.Ala1973Thr) rs1003957584 0.00001
NM_021098.3(CACNA1H):c.5968A>G (p.Arg1990Gly) rs779602893 0.00001
NM_172107.4(KCNQ2):c.104C>G (p.Thr35Ser) rs984632499 0.00001
NM_172107.4(KCNQ2):c.7C>G (p.Gln3Glu) rs868642147 0.00001
NM_198859.4(PRICKLE2):c.1706G>A (p.Arg569Gln) rs2076627525 0.00001
NM_198859.4(PRICKLE2):c.2246C>T (p.Pro749Leu) rs762399074 0.00001
NM_000814.6(GABRB3):c.424C>T (p.Arg142Cys) rs1892475061
NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del) rs2140730286
NM_000814.6(GABRB3):c.791C>T (p.Ser264Phe) rs2140696672
NM_000834.5(GRIN2B):c.1126-3C>T rs1555112424
NM_000834.5(GRIN2B):c.3796C>T (p.Pro1266Ser) rs199935748
NM_000834.5(GRIN2B):c.4406G>A (p.Ser1469Asn) rs202133231
NM_001130438.3(SPTAN1):c.7132G>A (p.Ala2378Thr) rs767301092
NM_001130438.3(SPTAN1):c.7229C>T (p.Ser2410Phe) rs2132106592
NM_001134407.3(GRIN2A):c.1007+5923G>C rs2141611422
NM_001134407.3(GRIN2A):c.1778-2A>C rs2141313144
NM_001134407.3(GRIN2A):c.2870G>A (p.Gly957Glu) rs2141136377
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr) rs1555482611
NM_001134407.3(GRIN2A):c.3792G>A (p.Glu1264=) rs2141129533
NM_001134407.3(GRIN2A):c.415-89902G>A rs2141916983
NM_001134407.3(GRIN2A):c.4319C>T (p.Ser1440Phe) rs752489703
NM_001134407.3(GRIN2A):c.4324C>G (p.Pro1442Ala) rs59975221
NM_001199107.2(TBC1D24):c.-116+125A>C rs2141848023
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs) rs2141872119
NM_001271.4(CHD2):c.2189+8C>T rs1486555733
NM_001271.4(CHD2):c.2514_2524del (p.Asp838fs) rs2141839134
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys) rs2054200789
NM_001271.4(CHD2):c.5126A>T (p.His1709Leu) rs1172858416
NM_001323289.2(CDKL5):c.259T>G (p.Leu87Val) rs2147139674
NM_001323289.2(CDKL5):c.745-3007_825+774del
NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met) rs2138748384
NM_001330260.2(SCN8A):c.2901+2T>C rs2138863154
NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val) rs2138868846
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln) rs1555226186
NM_001330260.2(SCN8A):c.5924T>C (p.Val1975Ala) rs1565934813
NM_001394067.2(RAPGEF2):c.819G>C (p.Glu273Asp) rs1764342195
NM_004408.4(DNM1):c.2535-613C>T rs1385389663
NM_004519.4(KCNQ3):c.386+67111C>T rs2130799710
NM_005076.5(CNTN2):c.931T>C (p.Ser311Pro) rs1064794428
NM_005885.4(MARCHF6):c.914-8C>G rs2126759091
NM_006279.5(ST3GAL3):c.-31+9631T>C rs1163915476
NM_006279.5(ST3GAL3):c.1019G>A (p.Arg340His) rs2082916829
NM_014494.4(TNRC6A):c.136AAG[1] (p.Lys47del) rs2151408186
NM_014494.4(TNRC6A):c.3838-10G>T rs760665329
NM_015192.4(PLCB1):c.1573A>G (p.Met525Val) rs138851178
NM_015192.4(PLCB1):c.3635T>C (p.Phe1212Ser) rs202009902
NM_018023.5(YEATS2):c.1671G>C (p.Leu557Phe)
NM_018023.5(YEATS2):c.4087G>A (p.Ala1363Thr) rs2108544825
NM_018023.5(YEATS2):c.444C>G (p.Asp148Glu) rs1716550954
NM_020151.4(STARD7):c.175G>T (p.Gly59Cys) rs1436909374
NM_021098.3(CACNA1H):c.2132A>G (p.Glu711Gly) rs1450545207
NM_021098.3(CACNA1H):c.3218C>T (p.Ser1073Phe) rs369474500
NM_021098.3(CACNA1H):c.592A>G (p.Ile198Val) rs774463255
NM_021098.3(CACNA1H):c.6122G>C (p.Gly2041Ala)
NM_021098.3(CACNA1H):c.6895G>T (p.Ala2299Ser) rs2141413125
NM_021927.3(GUF1):c.1472_1476del (p.Leu491fs) rs747316677
NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr) rs1900084663
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_173354.5(SIK1):c.1471G>C (p.Val491Leu) rs140222760
NM_198904.4(GABRG2):c.428G>A (p.Gly143Glu) rs747372679
NM_207506.3(SAMD12):c.13+16544C>A rs1827958407
Single allele

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