ClinVar Miner

List of variants studied for hypnic headache by Illumina Laboratory Services, Illumina

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 240
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.*721A>G rs4667859 0.99675
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_001165963.4(SCN1A):c.*1739C>T rs1813502 0.70050
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_000702.4(ATP1A2):c.*2259T>A rs3747625 0.21913
NM_000702.4(ATP1A2):c.*1026A>G rs2070704 0.21697
NM_000702.4(ATP1A2):c.*1095T>A rs56199408 0.21686
NM_000702.4(ATP1A2):c.*1629T>C rs1046995 0.21680
NM_000702.4(ATP1A2):c.*746C>T rs62620182 0.21625
NM_000702.4(ATP1A2):c.*748C>T rs2070703 0.21623
NM_000702.4(ATP1A2):c.*589G>C rs2070702 0.20323
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125 0.18359
NM_001165963.4(SCN1A):c.*1025T>C rs10497275 0.13322
NM_000702.4(ATP1A2):c.3034+14C>T rs41288127 0.13198
NM_000702.4(ATP1A2):c.*686G>A rs55843060 0.12407
NM_000702.4(ATP1A2):c.*1548C>T rs56003400 0.10471
NM_000702.4(ATP1A2):c.*1547G>T rs55845795 0.10469
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715 0.09246
NM_001165963.4(SCN1A):c.*1961C>T rs7577411 0.08473
NM_000702.4(ATP1A2):c.*1280G>A rs4656884 0.05514
NM_001165963.4(SCN1A):c.*1693A>G rs7591522 0.03977
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_000702.4(ATP1A2):c.*621A>G rs12077973 0.03640
NM_001165963.4(SCN1A):c.*172dup rs113696479 0.03631
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714 0.03612
NM_000702.4(ATP1A2):c.*253C>T rs78930771 0.03535
NM_000702.4(ATP1A2):c.*546G>A rs62621782 0.03531
NM_000702.4(ATP1A2):c.1652-11C>G rs17846713 0.03344
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123 0.03029
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254 0.02789
NM_000702.4(ATP1A2):c.*682T>C rs60949592 0.02374
NM_000702.4(ATP1A2):c.1980C>T (p.Cys660=) rs61734529 0.02220
NM_000702.4(ATP1A2):c.*1780G>A rs74123255 0.02185
NM_001165963.4(SCN1A):c.1662+9C>A rs7559148 0.02030
NM_001165963.4(SCN1A):c.*1224G>A rs77088538 0.01643
NM_000702.4(ATP1A2):c.*703G>A rs57902482 0.01488
NM_000702.4(ATP1A2):c.*1284C>T rs78507938 0.01486
NM_001165963.4(SCN1A):c.*1653C>T rs79971813 0.01291
NM_001165963.4(SCN1A):c.*1031A>T rs114522414 0.00876
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_000702.4(ATP1A2):c.*72G>A rs2070701 0.00654
NM_001165963.4(SCN1A):c.*1952T>C rs184794128 0.00627
NM_000702.4(ATP1A2):c.*1781C>T rs116744472 0.00585
NM_000702.4(ATP1A2):c.-48C>G rs41265761 0.00414
NM_000702.4(ATP1A2):c.2943-15C>T rs111510835 0.00350
NM_000702.4(ATP1A2):c.*932T>C rs183455719 0.00347
NM_001165963.4(SCN1A):c.*1864T>A rs150155252 0.00341
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271 0.00322
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00321
NM_001165963.4(SCN1A):c.*588A>G rs539073575 0.00258
NM_000702.4(ATP1A2):c.*1000T>G rs116194737 0.00242
NM_000702.4(ATP1A2):c.2967C>T (p.Phe989=) rs138826759 0.00235
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_001165963.4(SCN1A):c.*677G>A rs142037381 0.00181
NM_001165963.4(SCN1A):c.3705+12T>G rs147032678 0.00181
NM_000702.4(ATP1A2):c.2115+14C>T rs200854586 0.00168
NM_000702.4(ATP1A2):c.*1355C>T rs190096000 0.00166
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001165963.4(SCN1A):c.3804T>C (p.Leu1268=) rs143980709 0.00159
NM_000702.4(ATP1A2):c.*1212G>C rs558677583 0.00126
NM_000702.4(ATP1A2):c.*1207G>T rs566535472 0.00119
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_000702.4(ATP1A2):c.*86G>A rs368064571 0.00099
NM_000702.4(ATP1A2):c.*482A>C rs373029091 0.00097
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_000702.4(ATP1A2):c.*2073A>G rs373523004 0.00081
NM_000702.4(ATP1A2):c.2563+4C>T rs3747626 0.00081
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 0.00069
NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) rs145101180 0.00062
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_001165963.4(SCN1A):c.*774G>A rs570379164 0.00054
NM_001165963.4(SCN1A):c.*1152A>G rs911171545 0.00049
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512 0.00048
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00047
NM_000702.4(ATP1A2):c.*286G>C rs542623068 0.00032
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val) rs201870762 0.00030
NM_000702.4(ATP1A2):c.*2223C>T rs866583777 0.00029
NM_000702.4(ATP1A2):c.*142A>G rs117680524 0.00026
NM_000702.4(ATP1A2):c.*1835C>T rs774745308 0.00026
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192 0.00023
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325 0.00021
NM_001165963.4(SCN1A):c.*1795G>A rs189183531 0.00021
NM_000702.4(ATP1A2):c.*1290T>C rs886045428 0.00019
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) rs141467566 0.00019
NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) rs187733403 0.00019
NM_000702.4(ATP1A2):c.*73G>A rs368523013 0.00016
NM_001165963.4(SCN1A):c.1378-3T>C rs150964803 0.00016
NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln) rs145670933 0.00016
NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=) rs55741021 0.00015
NM_001165963.4(SCN1A):c.*129T>G rs886055040 0.00015
NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=) rs142571794 0.00015
NM_000702.4(ATP1A2):c.*2184A>G rs796180952 0.00014
NM_001165963.4(SCN1A):c.*797T>C rs550647308 0.00013
NM_000702.4(ATP1A2):c.-70G>A rs569640199 0.00011
NM_001165963.4(SCN1A):c.*1366A>T rs959627960 0.00011
NM_001165963.4(SCN1A):c.*1989C>T rs371391758 0.00011
NM_001165963.4(SCN1A):c.*460A>C rs746164130 0.00011
NM_001165963.4(SCN1A):c.*553G>A rs771107716 0.00011
NM_001165963.4(SCN1A):c.3498G>A (p.Gln1166=) rs145410000 0.00011
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405 0.00011
NM_000702.4(ATP1A2):c.*120A>G rs886045419 0.00009
NM_000702.4(ATP1A2):c.*870G>A rs886045423 0.00009
NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn) rs374501280 0.00009
NM_001165963.4(SCN1A):c.2649C>T (p.Ile883=) rs543436497 0.00008
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509 0.00008
NM_000702.4(ATP1A2):c.*15G>A rs187737212 0.00007
NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=) rs139022921 0.00007
NM_000702.4(ATP1A2):c.*1461C>T rs971355280 0.00006
NM_000702.4(ATP1A2):c.*147C>T rs574763789 0.00006
NM_000702.4(ATP1A2):c.*175C>T rs886045421 0.00006
NM_000702.4(ATP1A2):c.*910A>G rs886045424 0.00006
NM_000702.4(ATP1A2):c.1821C>T (p.Gly607=) rs771085157 0.00006
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) rs121918619 0.00006
NM_001165963.4(SCN1A):c.2176+11A>C rs201604887 0.00006
NM_001165963.4(SCN1A):c.333A>G (p.Leu111=) rs201592683 0.00006
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=) rs369688121 0.00006
NM_000702.4(ATP1A2):c.1461+5G>A rs199906945 0.00005
NM_000702.4(ATP1A2):c.627T>C (p.Cys209=) rs139229302 0.00005
NM_001165963.4(SCN1A):c.*186G>A rs948256829 0.00005
NM_001165963.4(SCN1A):c.*458G>A rs772641408 0.00005
NM_000702.4(ATP1A2):c.*1356G>A rs538918257 0.00004
NM_000702.4(ATP1A2):c.969C>T (p.Ile323=) rs28716941 0.00004
NM_000702.4(ATP1A2):c.*511C>G rs907113046 0.00003
NM_001165963.4(SCN1A):c.*1794C>T rs922803278 0.00003
NM_001165963.4(SCN1A):c.*1950G>A rs773354801 0.00003
NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile) rs121918771 0.00003
NM_000702.4(ATP1A2):c.*1737C>T rs776064194 0.00002
NM_000702.4(ATP1A2):c.1146C>T (p.Asn382=) rs763041955 0.00002
NM_000702.4(ATP1A2):c.151C>T (p.Arg51Cys) rs747283283 0.00002
NM_000702.4(ATP1A2):c.1572G>A (p.Glu524=) rs775192056 0.00002
NM_000702.4(ATP1A2):c.1578G>A (p.Pro526=) rs376128790 0.00002
NM_000702.4(ATP1A2):c.2412C>T (p.Ile804=) rs143969080 0.00002
NM_000702.4(ATP1A2):c.360G>A (p.Glu120=) rs369061211 0.00002
NM_001165963.4(SCN1A):c.1882T>A (p.Ser628Thr) rs752639991 0.00002
NM_001165963.4(SCN1A):c.2234T>G (p.Phe745Cys) rs778852888 0.00002
NM_001165963.4(SCN1A):c.2838C>T (p.Arg946=) rs764174474 0.00002
NM_001165963.4(SCN1A):c.3012T>C (p.Asp1004=) rs748537030 0.00002
NM_001165963.4(SCN1A):c.3044C>T (p.Ala1015Val) rs772487501 0.00002
NM_001165963.4(SCN1A):c.4095C>T (p.Gly1365=) rs372749240 0.00002
NM_000702.4(ATP1A2):c.*1630C>T rs886045433 0.00001
NM_000702.4(ATP1A2):c.*1712C>A rs1242345851 0.00001
NM_000702.4(ATP1A2):c.*1815G>C rs886045435 0.00001
NM_000702.4(ATP1A2):c.*1953T>C rs767882535 0.00001
NM_000702.4(ATP1A2):c.*535G>C rs961293073 0.00001
NM_000702.4(ATP1A2):c.*648A>G rs886045422 0.00001
NM_000702.4(ATP1A2):c.1098C>A (p.Gly366=) rs779356370 0.00001
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met) rs121918618 0.00001
NM_000702.4(ATP1A2):c.1674A>G (p.Pro558=) rs769798147 0.00001
NM_000702.4(ATP1A2):c.1931G>A (p.Arg644Gln) rs745824475 0.00001
NM_000702.4(ATP1A2):c.2015C>T (p.Ser672Leu) rs145701604 0.00001
NM_000702.4(ATP1A2):c.2115+8C>T rs768746868 0.00001
NM_000702.4(ATP1A2):c.2285-7C>T rs915777286 0.00001
NM_000702.4(ATP1A2):c.2563+15G>A rs528454399 0.00001
NM_000702.4(ATP1A2):c.2564-14C>T rs775031246 0.00001
NM_000702.4(ATP1A2):c.285C>T (p.Phe95=) rs886045415 0.00001
NM_000702.4(ATP1A2):c.2877G>A (p.Thr959=) rs200127278 0.00001
NM_000702.4(ATP1A2):c.45G>A (p.Thr15=) rs764559670 0.00001
NM_001165963.4(SCN1A):c.*1121T>C rs886055034 0.00001
NM_001165963.4(SCN1A):c.*1297G>A rs1030491723 0.00001
NM_001165963.4(SCN1A):c.*1482G>A rs886055033 0.00001
NM_001165963.4(SCN1A):c.*259T>C rs886055039 0.00001
NM_001165963.4(SCN1A):c.*374T>C rs1466790566 0.00001
NM_001165963.4(SCN1A):c.*515G>T rs1268496047 0.00001
NM_001165963.4(SCN1A):c.*912T>A rs886055036 0.00001
NM_001165963.4(SCN1A):c.*926C>T rs751306912 0.00001
NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met) rs774937055 0.00001
NM_001165963.4(SCN1A):c.1753G>C (p.Gly585Arg) rs753050564 0.00001
NM_001165963.4(SCN1A):c.2006C>T (p.Pro669Leu) rs570326929 0.00001
NM_001165963.4(SCN1A):c.2508C>T (p.Asp836=) rs575554223 0.00001
NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=) rs750943685 0.00001
NM_001165963.4(SCN1A):c.4002G>A (p.Arg1334=) rs751215933 0.00001
NM_001165963.4(SCN1A):c.4581+12C>T rs886055042 0.00001
NM_001165963.4(SCN1A):c.4941A>G (p.Leu1647=) rs770111331 0.00001
NM_001165963.4(SCN1A):c.560G>A (p.Arg187Gln) rs777631884 0.00001
NM_001165963.4(SCN1A):c.5656C>A (p.Arg1886=) rs779614747 0.00001
NM_001165963.4(SCN1A):c.606C>T (p.Tyr202=) rs374555589 0.00001
NM_001165963.4(SCN1A):c.83G>A (p.Arg28His) rs398123601 0.00001
NM_000702.3(ATP1A2):c.-146G>A rs1651151470
NM_000702.4(ATP1A2):c.*1000T>A rs116194737
NM_000702.4(ATP1A2):c.*1007G>C rs1652178478
NM_000702.4(ATP1A2):c.*1035A>G rs886045425
NM_000702.4(ATP1A2):c.*1211C>A rs62621216
NM_000702.4(ATP1A2):c.*1241del rs886045426
NM_000702.4(ATP1A2):c.*1245A>C rs886045427
NM_000702.4(ATP1A2):c.*1284C>A rs78507938
NM_000702.4(ATP1A2):c.*1333dup rs538086614
NM_000702.4(ATP1A2):c.*143G>T rs886045420
NM_000702.4(ATP1A2):c.*1482del rs886045430
NM_000702.4(ATP1A2):c.*1496del rs138196662
NM_000702.4(ATP1A2):c.*1547_*1548delinsTT rs886045432
NM_000702.4(ATP1A2):c.*1643_*1646del rs533473532
NM_000702.4(ATP1A2):c.*18C>T rs886045418
NM_000702.4(ATP1A2):c.*2065G>A rs886045436
NM_000702.4(ATP1A2):c.*2070C>T rs886045437
NM_000702.4(ATP1A2):c.*2147T>G rs886045438
NM_000702.4(ATP1A2):c.*25T>C rs768950032
NM_000702.4(ATP1A2):c.*383C>T rs528397631
NM_000702.4(ATP1A2):c.*488G>T rs765388921
NM_000702.4(ATP1A2):c.*850C>T rs779877049
NM_000702.4(ATP1A2):c.111G>A (p.Val37=) rs886045414
NM_000702.4(ATP1A2):c.13-11_13-8del rs373796693
NM_000702.4(ATP1A2):c.1363C>A (p.Leu455Ile) rs1490998665
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.1930C>T (p.Arg644Trp) rs150784486
NM_000702.4(ATP1A2):c.2014T>A (p.Ser672Thr) rs1651897433
NM_000702.4(ATP1A2):c.246C>G (p.Pro82=) rs537472446
NM_000702.4(ATP1A2):c.253C>T (p.Pro85Ser) rs1448339977
NM_000702.4(ATP1A2):c.2564-8A>G rs554846350
NM_000702.4(ATP1A2):c.2745C>T (p.Cys915=) rs1651972956
NM_000702.4(ATP1A2):c.528G>T (p.Met176Ile) rs867416764
NM_000702.4(ATP1A2):c.631-6C>T rs886045416
NM_000702.4(ATP1A2):c.754G>A (p.Ala252Thr) rs886045417
NM_001165963.4(SCN1A):c.*1125T>G rs1688938789
NM_001165963.4(SCN1A):c.*1144G>C rs1688934031
NM_001165963.4(SCN1A):c.*1325G>A rs1688909719
NM_001165963.4(SCN1A):c.*1872del rs878898132
NM_001165963.4(SCN1A):c.*672_*675del rs886055038
NM_001165963.4(SCN1A):c.*878dup rs886055037
NM_001165963.4(SCN1A):c.*977T>C rs886055035
NM_001165963.4(SCN1A):c.1171-10_1171-9del rs372840031
NM_001165963.4(SCN1A):c.2044-14A>T rs537722606
NM_001165963.4(SCN1A):c.2044-5del rs549232924
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001165963.4(SCN1A):c.2177-8dup rs747086735
NM_001165963.4(SCN1A):c.2459T>C (p.Ile820Thr) rs886055045
NM_001165963.4(SCN1A):c.3046G>A (p.Val1016Met) rs370857858
NM_001165963.4(SCN1A):c.3513T>C (p.Pro1171=) rs886055044
NM_001165963.4(SCN1A):c.3551-12C>T rs1692905818
NM_001165963.4(SCN1A):c.384-5C>T rs781505393
NM_001165963.4(SCN1A):c.3880-10G>C rs886055043
NM_001165963.4(SCN1A):c.4220G>A (p.Arg1407Gln) rs1691045272
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001165963.4(SCN1A):c.565C>G (p.Pro189Ala) rs886055046
NM_001165963.4(SCN1A):c.5901C>A (p.Asn1967Lys) rs1689106949
NM_001165963.4(SCN1A):c.5992G>C (p.Glu1998Gln) rs886055041

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