ClinVar Miner

List of variants reported as likely benign for hypnic headache

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 525
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051 0.67380
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027 0.07737
NM_001165963.4(SCN1A):c.*172dup rs113696479 0.03631
NM_001165963.4(SCN1A):c.1662+9C>A rs7559148 0.02030
NM_001127222.2(CACNA1A):c.3989+16A>G rs149764550 0.01798
NM_001165963.4(SCN1A):c.*1031A>T rs114522414 0.00876
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_001127222.2(CACNA1A):c.5067+20G>A rs184517632 0.00390
NM_000702.4(ATP1A2):c.2943-15C>T rs111510835 0.00350
NM_001165963.4(SCN1A):c.*1864T>A rs150155252 0.00341
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00321
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_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu) rs573961089 0.00130
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
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_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 0.00069
NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln) rs373178892 0.00056
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512 0.00048
NM_001127222.2(CACNA1A):c.1199-17G>C rs190836274 0.00034
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val) rs201870762 0.00030
NM_000702.4(ATP1A2):c.2973C>T (p.Tyr991=) rs149286529 0.00024
NM_000702.4(ATP1A2):c.339C>T (p.Tyr113=) rs148929192 0.00023
NM_000702.4(ATP1A2):c.1652-8C>T rs370023134 0.00022
NM_000702.4(ATP1A2):c.1964+14A>G rs201131020 0.00022
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.2273G>C (p.Gly758Ala) rs147183887 0.00020
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) rs141467566 0.00019
NM_000702.4(ATP1A2):c.2229C>T (p.Ala743=) rs138381089 0.00017
NM_000702.4(ATP1A2):c.1594C>G (p.Gln532Glu) rs575299887 0.00016
NM_000702.4(ATP1A2):c.1652-18C>A rs372842016 0.00016
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271 0.00016
NM_001165963.4(SCN1A):c.1378-3T>C rs150964803 0.00016
NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=) rs55741021 0.00015
NM_000702.4(ATP1A2):c.1262G>A (p.Arg421Gln) rs139499540 0.00014
NM_000702.4(ATP1A2):c.381+12C>T rs368856029 0.00014
NM_001127222.2(CACNA1A):c.7328C>T (p.Ala2443Val) rs763414737 0.00013
NM_000702.4(ATP1A2):c.2790C>T (p.Asp930=) rs376259974 0.00012
NM_001165963.4(SCN1A):c.3498G>A (p.Gln1166=) rs145410000 0.00011
NM_000702.4(ATP1A2):c.1017+20G>T rs370753875 0.00010
NM_000702.4(ATP1A2):c.1251G>C (p.Thr417=) rs142309356 0.00010
NM_000702.4(ATP1A2):c.1581C>G (p.Leu527=) rs371520433 0.00010
NM_000702.4(ATP1A2):c.2440-14C>T rs200630442 0.00010
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys) rs202002033 0.00010
NM_000702.4(ATP1A2):c.1415A>G (p.Asn472Ser) rs529607288 0.00009
NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn) rs374501280 0.00009
NM_000702.4(ATP1A2):c.2868G>A (p.Leu956=) rs373694534 0.00009
NM_000702.4(ATP1A2):c.2070G>A (p.Thr690=) rs142865268 0.00008
NM_000702.4(ATP1A2):c.2116-13G>A rs201759755 0.00008
NM_000702.4(ATP1A2):c.765T>A (p.Ile255=) rs377281050 0.00008
NM_001127222.2(CACNA1A):c.979-10C>A rs374647321 0.00008
NM_001165963.4(SCN1A):c.2649C>T (p.Ile883=) rs543436497 0.00008
NM_000702.4(ATP1A2):c.*15G>A rs187737212 0.00007
NM_000702.4(ATP1A2):c.1332C>T (p.Asp444=) rs765455081 0.00007
NM_000702.4(ATP1A2):c.1965-9A>T rs774922813 0.00007
NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=) rs139022921 0.00007
NM_001127222.2(CACNA1A):c.6527-16C>T rs752985059 0.00007
NM_000702.4(ATP1A2):c.1368G>A (p.Lys456=) rs369226331 0.00006
NM_000702.4(ATP1A2):c.2514G>A (p.Thr838=) rs140646289 0.00006
NM_000702.4(ATP1A2):c.2526G>A (p.Val842=) rs777716327 0.00006
NM_000702.4(ATP1A2):c.2742G>A (p.Thr914=) rs201215311 0.00006
NM_000702.4(ATP1A2):c.1651+18G>T rs368117263 0.00005
NM_000702.4(ATP1A2):c.1735A>G (p.Lys579Glu) rs535175099 0.00005
NM_000702.4(ATP1A2):c.2115+15G>A rs769939965 0.00005
NM_000702.4(ATP1A2):c.2292G>C (p.Leu764=) rs753003302 0.00005
NM_000702.4(ATP1A2):c.627T>C (p.Cys209=) rs139229302 0.00005
NM_000702.4(ATP1A2):c.987C>T (p.Asn329=) rs770381135 0.00005
NM_000702.4(ATP1A2):c.1018-11T>G rs371070057 0.00004
NM_000702.4(ATP1A2):c.1317C>T (p.Ser439=) rs759939624 0.00004
NM_000702.4(ATP1A2):c.2151C>T (p.Asn717=) rs140707454 0.00004
NM_000702.4(ATP1A2):c.61G>A (p.Gly21Ser) rs758613291 0.00004
NM_000702.4(ATP1A2):c.915C>T (p.Phe305=) rs376035600 0.00004
NM_000702.4(ATP1A2):c.969C>T (p.Ile323=) rs28716941 0.00004
NM_001127222.2(CACNA1A):c.3989+11T>C rs762686149 0.00004
NM_000702.4(ATP1A2):c.1128G>A (p.Thr376=) rs374374188 0.00003
NM_000702.4(ATP1A2):c.1284C>T (p.Arg428=) rs752479774 0.00003
NM_000702.4(ATP1A2):c.1288G>A (p.Val430Ile) rs370111257 0.00003
NM_000702.4(ATP1A2):c.1501G>A (p.Val501Met) rs150465651 0.00003
NM_000702.4(ATP1A2):c.2103A>T (p.Gly701=) rs963491650 0.00003
NM_000702.4(ATP1A2):c.2136G>A (p.Thr712=) rs760213030 0.00003
NM_000702.4(ATP1A2):c.2181T>C (p.Ile727=) rs764960268 0.00003
NM_000702.4(ATP1A2):c.2271G>A (p.Thr757=) rs202094576 0.00003
NM_000702.4(ATP1A2):c.2520G>A (p.Lys840=) rs587780283 0.00003
NM_000702.4(ATP1A2):c.2683C>T (p.Leu895=) rs140057048 0.00003
NM_000702.4(ATP1A2):c.2710-10C>T rs1375129909 0.00003
NM_000702.4(ATP1A2):c.2710-19C>G rs757662486 0.00003
NM_000702.4(ATP1A2):c.2840+17A>G rs1469976277 0.00003
NM_000702.4(ATP1A2):c.2937G>T (p.Pro979=) rs201879002 0.00003
NM_000702.4(ATP1A2):c.2942+15C>T rs202210259 0.00003
NM_000702.4(ATP1A2):c.2942+19C>T rs187187416 0.00003
NM_000702.4(ATP1A2):c.36C>T (p.Ala12=) rs767913105 0.00003
NM_000702.4(ATP1A2):c.537C>T (p.Asn179=) rs759406149 0.00003
NM_000702.4(ATP1A2):c.705G>A (p.Leu235=) rs1019036534 0.00003
NM_000702.4(ATP1A2):c.1146C>T (p.Asn382=) rs763041955 0.00002
NM_000702.4(ATP1A2):c.1216+9G>C rs781497176 0.00002
NM_000702.4(ATP1A2):c.13-20G>A rs867285806 0.00002
NM_000702.4(ATP1A2):c.1326+7G>A rs751078196 0.00002
NM_000702.4(ATP1A2):c.1500C>T (p.His500=) rs140480795 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.159C>T (p.Tyr53=) rs748066442 0.00002
NM_000702.4(ATP1A2):c.1700A>G (p.Lys567Arg) rs374724827 0.00002
NM_000702.4(ATP1A2):c.1710G>A (p.Thr570=) rs536168465 0.00002
NM_000702.4(ATP1A2):c.178-20G>A rs1306231956 0.00002
NM_000702.4(ATP1A2):c.1815C>T (p.Ser605=) rs771651622 0.00002
NM_000702.4(ATP1A2):c.1905C>T (p.Asn635=) rs767754595 0.00002
NM_000702.4(ATP1A2):c.2088C>T (p.Leu696=) rs151052102 0.00002
NM_000702.4(ATP1A2):c.2115+19G>A rs375635569 0.00002
NM_000702.4(ATP1A2):c.2211C>T (p.Asp737=) rs755403357 0.00002
NM_000702.4(ATP1A2):c.2319C>T (p.Ile773=) rs764544114 0.00002
NM_000702.4(ATP1A2):c.2391A>G (p.Leu797=) rs780434387 0.00002
NM_000702.4(ATP1A2):c.2412C>T (p.Ile804=) rs143969080 0.00002
NM_000702.4(ATP1A2):c.2439+7G>A rs772837347 0.00002
NM_000702.4(ATP1A2):c.2709+13G>A rs371943114 0.00002
NM_000702.4(ATP1A2):c.2769C>T (p.Ile923=) rs748438293 0.00002
NM_000702.4(ATP1A2):c.2942+16G>A rs776114360 0.00002
NM_000702.4(ATP1A2):c.3034+17T>G rs890218721 0.00002
NM_000702.4(ATP1A2):c.354C>T (p.Ala118=) rs765171580 0.00002
NM_000702.4(ATP1A2):c.360G>A (p.Glu120=) rs369061211 0.00002
NM_000702.4(ATP1A2):c.60C>T (p.Gly20=) rs746073352 0.00002
NM_000702.4(ATP1A2):c.789G>A (p.Thr263=) rs748890267 0.00002
NM_001165963.4(SCN1A):c.3012T>C (p.Asp1004=) rs748537030 0.00002
NM_000702.4(ATP1A2):c.1017+10T>G rs774500282 0.00001
NM_000702.4(ATP1A2):c.1017+7G>A rs1438633873 0.00001
NM_000702.4(ATP1A2):c.1018-5A>G rs776327796 0.00001
NM_000702.4(ATP1A2):c.1029C>T (p.Thr343=) rs140363699 0.00001
NM_000702.4(ATP1A2):c.1083G>A (p.Ala361=) rs778171140 0.00001
NM_000702.4(ATP1A2):c.1098C>A (p.Gly366=) rs779356370 0.00001
NM_000702.4(ATP1A2):c.1110C>T (p.Thr370=) rs747219922 0.00001
NM_000702.4(ATP1A2):c.1155C>T (p.Thr385=) rs759207376 0.00001
NM_000702.4(ATP1A2):c.1158C>T (p.Val386=) rs752381925 0.00001
NM_000702.4(ATP1A2):c.1216+12C>T rs748392461 0.00001
NM_000702.4(ATP1A2):c.1216+8G>A rs755113025 0.00001
NM_000702.4(ATP1A2):c.1245G>A (p.Thr415=) rs756285165 0.00001
NM_000702.4(ATP1A2):c.126C>T (p.His42=) rs750571104 0.00001
NM_000702.4(ATP1A2):c.13-6C>A rs1345831901 0.00001
NM_000702.4(ATP1A2):c.1326+13G>A rs753995041 0.00001
NM_000702.4(ATP1A2):c.1327-12C>G rs903572955 0.00001
NM_000702.4(ATP1A2):c.1422G>A (p.Lys474=) rs144538744 0.00001
NM_000702.4(ATP1A2):c.1462-10G>C rs1409479382 0.00001
NM_000702.4(ATP1A2):c.1462-13G>A rs757012921 0.00001
NM_000702.4(ATP1A2):c.1473C>T (p.His491=) rs768902765 0.00001
NM_000702.4(ATP1A2):c.1488C>T (p.Ser496=) rs1389306585 0.00001
NM_000702.4(ATP1A2):c.1518G>A (p.Gly506=) rs778637759 0.00001
NM_000702.4(ATP1A2):c.1542G>A (p.Arg514=) rs41288125 0.00001
NM_000702.4(ATP1A2):c.1550C>A (p.Thr517Asn) rs749326394 0.00001
NM_000702.4(ATP1A2):c.1590G>A (p.Glu530=) rs1042062045 0.00001
NM_000702.4(ATP1A2):c.1644T>C (p.Arg548=) rs1448554496 0.00001
NM_000702.4(ATP1A2):c.1647G>A (p.Val549=) rs1553245135 0.00001
NM_000702.4(ATP1A2):c.171G>C (p.Leu57=) rs1651388179 0.00001
NM_000702.4(ATP1A2):c.1731G>A (p.Thr577=) rs148228696 0.00001
NM_000702.4(ATP1A2):c.1806G>A (p.Lys602=) rs1553245180 0.00001
NM_000702.4(ATP1A2):c.1842C>T (p.Thr614=) rs760365280 0.00001
NM_000702.4(ATP1A2):c.1866G>A (p.Lys622=) rs763242526 0.00001
NM_000702.4(ATP1A2):c.1881C>T (p.Gly627=) rs775031080 0.00001
NM_000702.4(ATP1A2):c.1911T>C (p.Thr637=) rs550181745 0.00001
NM_000702.4(ATP1A2):c.1964+13C>A rs776155328 0.00001
NM_000702.4(ATP1A2):c.1965-7C>A rs1651894187 0.00001
NM_000702.4(ATP1A2):c.1989C>T (p.His663=) rs765006961 0.00001
NM_000702.4(ATP1A2):c.2016G>A (p.Ser672=) rs762744089 0.00001
NM_000702.4(ATP1A2):c.204C>T (p.Asp68=) rs745431386 0.00001
NM_000702.4(ATP1A2):c.2055C>T (p.Ile685=) rs754490941 0.00001
NM_000702.4(ATP1A2):c.2115+8C>T rs768746868 0.00001
NM_000702.4(ATP1A2):c.2187T>C (p.Ile729=) rs751808345 0.00001
NM_000702.4(ATP1A2):c.2284+8G>C rs763689415 0.00001
NM_000702.4(ATP1A2):c.2285-7C>T rs915777286 0.00001
NM_000702.4(ATP1A2):c.2289C>A (p.Arg763=) rs563607148 0.00001
NM_000702.4(ATP1A2):c.2346C>T (p.Pro782=) rs754391034 0.00001
NM_000702.4(ATP1A2):c.2427G>A (p.Leu809=) rs369916877 0.00001
NM_000702.4(ATP1A2):c.2439+13G>A rs1038003940 0.00001
NM_000702.4(ATP1A2):c.2460C>A (p.Ala820=) rs201669294 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.2636G>A (p.Arg879Gln) rs761597771 0.00001
NM_000702.4(ATP1A2):c.2709+17A>G rs961165805 0.00001
NM_000702.4(ATP1A2):c.285C>T (p.Phe95=) rs886045415 0.00001
NM_000702.4(ATP1A2):c.2880G>A (p.Ala960=) rs762969049 0.00001
NM_000702.4(ATP1A2):c.2889C>G (p.Ala963=) rs150289737 0.00001
NM_000702.4(ATP1A2):c.2895C>G (p.Leu965=) rs200706103 0.00001
NM_000702.4(ATP1A2):c.291G>T (p.Gly97=) rs759566498 0.00001
NM_000702.4(ATP1A2):c.2942+20G>A rs759929964 0.00001
NM_000702.4(ATP1A2):c.3034+18C>T rs1307989572 0.00001
NM_000702.4(ATP1A2):c.375C>T (p.Asn125=) rs143906805 0.00001
NM_000702.4(ATP1A2):c.378C>T (p.Asp126=) rs1651482544 0.00001
NM_000702.4(ATP1A2):c.381+13G>A rs772082739 0.00001
NM_000702.4(ATP1A2):c.45G>A (p.Thr15=) rs764559670 0.00001
NM_000702.4(ATP1A2):c.495+9G>T rs1057522630 0.00001
NM_000702.4(ATP1A2):c.513G>A (p.Arg171=) rs770882300 0.00001
NM_000702.4(ATP1A2):c.588C>T (p.Arg196=) rs533663836 0.00001
NM_000702.4(ATP1A2):c.591C>T (p.Val197=) rs149251047 0.00001
NM_000702.4(ATP1A2):c.681C>T (p.Pro227=) rs771930383 0.00001
NM_000702.4(ATP1A2):c.741T>C (p.Cys247=) rs371882060 0.00001
NM_000702.4(ATP1A2):c.749-16C>A rs201643946 0.00001
NM_000702.4(ATP1A2):c.813C>T (p.Leu271=) rs747740289 0.00001
NM_000702.4(ATP1A2):c.814G>A (p.Ala272Thr) rs369898494 0.00001
NM_000702.4(ATP1A2):c.888C>T (p.Val296=) rs767314566 0.00001
NM_000702.4(ATP1A2):c.993T>G (p.Pro331=) rs773614984 0.00001
NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=) rs750943685 0.00001
NM_001165963.4(SCN1A):c.606C>T (p.Tyr202=) rs374555589 0.00001
NM_000702.4(ATP1A2):c.*1000T>A rs116194737
NM_000702.4(ATP1A2):c.1002T>C (p.Leu334=)
NM_000702.4(ATP1A2):c.1017+15C>T
NM_000702.4(ATP1A2):c.1017+9G>T rs1057521623
NM_000702.4(ATP1A2):c.1018-12T>C
NM_000702.4(ATP1A2):c.1018-15C>T
NM_000702.4(ATP1A2):c.1018-15_1018-13del rs1064795923
NM_000702.4(ATP1A2):c.1018-19T>C rs2101989055
NM_000702.4(ATP1A2):c.1018-4C>T rs1553244873
NM_000702.4(ATP1A2):c.1024C>T (p.Leu342=) rs1651662542
NM_000702.4(ATP1A2):c.1032G>A (p.Leu344=)
NM_000702.4(ATP1A2):c.1041G>A (p.Lys347=)
NM_000702.4(ATP1A2):c.1053G>T (p.Arg351=)
NM_000702.4(ATP1A2):c.1071G>A (p.Lys357=)
NM_000702.4(ATP1A2):c.1074C>T (p.Asn358=) rs1558005822
NM_000702.4(ATP1A2):c.1092G>C (p.Thr364=) rs55741021
NM_000702.4(ATP1A2):c.1092G>T (p.Thr364=)
NM_000702.4(ATP1A2):c.1098C>T (p.Gly366=)
NM_000702.4(ATP1A2):c.1104G>C (p.Thr368=) rs138766432
NM_000702.4(ATP1A2):c.1116C>T (p.Cys372=)
NM_000702.4(ATP1A2):c.1137C>T (p.Leu379=)
NM_000702.4(ATP1A2):c.1140C>G (p.Thr380=)
NM_000702.4(ATP1A2):c.1149C>T (p.Arg383=)
NM_000702.4(ATP1A2):c.1155C>A (p.Thr385=) rs759207376
NM_000702.4(ATP1A2):c.117+19C>T
NM_000702.4(ATP1A2):c.118-18T>C
NM_000702.4(ATP1A2):c.118-19C>T
NM_000702.4(ATP1A2):c.1182A>G (p.Gln394=) rs1553244893
NM_000702.4(ATP1A2):c.1188T>C (p.His396=) rs1570988795
NM_000702.4(ATP1A2):c.1197C>T (p.Asp399=)
NM_000702.4(ATP1A2):c.12+10C>T
NM_000702.4(ATP1A2):c.12+11C>T
NM_000702.4(ATP1A2):c.12+12T>A
NM_000702.4(ATP1A2):c.12+12T>G
NM_000702.4(ATP1A2):c.12+16del
NM_000702.4(ATP1A2):c.12+9C>T
NM_000702.4(ATP1A2):c.1216+13T>C
NM_000702.4(ATP1A2):c.1216+14C>G rs200681048
NM_000702.4(ATP1A2):c.1216+14C>T
NM_000702.4(ATP1A2):c.1216+18A>G
NM_000702.4(ATP1A2):c.1216+20G>A rs753264381
NM_000702.4(ATP1A2):c.1216+7G>T rs962782746
NM_000702.4(ATP1A2):c.1216+8G>T
NM_000702.4(ATP1A2):c.1217-12_1217-5del rs755994047
NM_000702.4(ATP1A2):c.1217-16C>T
NM_000702.4(ATP1A2):c.1217-18C>A
NM_000702.4(ATP1A2):c.1217-4C>T rs1359000049
NM_000702.4(ATP1A2):c.1217-8C>T rs1651676100
NM_000702.4(ATP1A2):c.1217-9T>C
NM_000702.4(ATP1A2):c.1218G>T (p.Gly406=)
NM_000702.4(ATP1A2):c.1224T>C (p.Thr408=) rs2101989424
NM_000702.4(ATP1A2):c.1255C>T (p.Leu419=) rs2101989458
NM_000702.4(ATP1A2):c.1257G>A (p.Leu419=)
NM_000702.4(ATP1A2):c.1266T>A (p.Ile422=)
NM_000702.4(ATP1A2):c.1296G>A (p.Lys432=)
NM_000702.4(ATP1A2):c.13-11T>G
NM_000702.4(ATP1A2):c.13-15_13-12del rs1184627670
NM_000702.4(ATP1A2):c.13-20G>C
NM_000702.4(ATP1A2):c.13-4T>A
NM_000702.4(ATP1A2):c.13-4T>G rs1258528903
NM_000702.4(ATP1A2):c.13-5C>T
NM_000702.4(ATP1A2):c.13-8T>A
NM_000702.4(ATP1A2):c.1305G>A (p.Gln435=) rs1243724562
NM_000702.4(ATP1A2):c.1323T>C (p.Ser441=)
NM_000702.4(ATP1A2):c.1326+14AC[5]
NM_000702.4(ATP1A2):c.1326+15C>A
NM_000702.4(ATP1A2):c.1326+15C>T
NM_000702.4(ATP1A2):c.1326+19C>G
NM_000702.4(ATP1A2):c.1326+8G>T
NM_000702.4(ATP1A2):c.1327-11T>A
NM_000702.4(ATP1A2):c.1327-14G>A
NM_000702.4(ATP1A2):c.1327-14G>T
NM_000702.4(ATP1A2):c.1327-19T>C
NM_000702.4(ATP1A2):c.1327-6T>C rs1338142228
NM_000702.4(ATP1A2):c.1335A>G (p.Thr445=) rs1570989335
NM_000702.4(ATP1A2):c.1365C>G (p.Leu455=)
NM_000702.4(ATP1A2):c.1410C>T (p.Asp470=)
NM_000702.4(ATP1A2):c.1428A>C (p.Ala476=)
NM_000702.4(ATP1A2):c.1461+10G>A
NM_000702.4(ATP1A2):c.1461+11G>T
NM_000702.4(ATP1A2):c.1461+15C>T
NM_000702.4(ATP1A2):c.1461+19G>A
NM_000702.4(ATP1A2):c.1461+9G>C rs1004576502
NM_000702.4(ATP1A2):c.1462-17A>G rs1570989962
NM_000702.4(ATP1A2):c.1467T>G (p.Ser489=)
NM_000702.4(ATP1A2):c.1485C>T (p.Asp495=)
NM_000702.4(ATP1A2):c.1575C>A (p.Ile525=)
NM_000702.4(ATP1A2):c.1581C>T (p.Leu527=)
NM_000702.4(ATP1A2):c.1638G>A (p.Gly546=)
NM_000702.4(ATP1A2):c.1651+7G>A rs1381652652
NM_000702.4(ATP1A2):c.1652-17C>T rs2101990662
NM_000702.4(ATP1A2):c.1652-19C>T rs1344017943
NM_000702.4(ATP1A2):c.1652-6C>A
NM_000702.4(ATP1A2):c.1652-6C>G rs768543626
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000702.4(ATP1A2):c.1652-8C>A rs370023134
NM_000702.4(ATP1A2):c.1652-8C>G rs370023134
NM_000702.4(ATP1A2):c.168C>T (p.Asp56=)
NM_000702.4(ATP1A2):c.1719G>A (p.Leu573=)
NM_000702.4(ATP1A2):c.1725T>C (p.Phe575=)
NM_000702.4(ATP1A2):c.174C>T (p.Ser58=)
NM_000702.4(ATP1A2):c.1752G>T (p.Gly584=)
NM_000702.4(ATP1A2):c.1755C>T (p.Leu585=) rs770315204
NM_000702.4(ATP1A2):c.177+14C>T
NM_000702.4(ATP1A2):c.177+17C>T
NM_000702.4(ATP1A2):c.1779G>A (p.Arg593=) rs1553245179
NM_000702.4(ATP1A2):c.178-14C>T
NM_000702.4(ATP1A2):c.178-16C>G
NM_000702.4(ATP1A2):c.178-16C>T
NM_000702.4(ATP1A2):c.178-7C>A
NM_000702.4(ATP1A2):c.1785T>C (p.Ala595=)
NM_000702.4(ATP1A2):c.1824C>A (p.Ile608=) rs2101990844
NM_000702.4(ATP1A2):c.1827+10del rs1651741885
NM_000702.4(ATP1A2):c.1827+13C>T rs1651741944
NM_000702.4(ATP1A2):c.1827+17C>T
NM_000702.4(ATP1A2):c.1827+19C>T
NM_000702.4(ATP1A2):c.1827+8C>A
NM_000702.4(ATP1A2):c.1827+8C>T rs1416413433
NM_000702.4(ATP1A2):c.1828-12C>T
NM_000702.4(ATP1A2):c.1908G>A (p.Glu636=)
NM_000702.4(ATP1A2):c.1930C>A (p.Arg644=) rs150784486
NM_000702.4(ATP1A2):c.1939A>G (p.Ile647Val)
NM_000702.4(ATP1A2):c.193C>A (p.Arg65=)
NM_000702.4(ATP1A2):c.1959C>T (p.Asn653=) rs768301089
NM_000702.4(ATP1A2):c.1962C>G (p.Pro654=) rs1057523083
NM_000702.4(ATP1A2):c.1964+12del
NM_000702.4(ATP1A2):c.1964+16G>A
NM_000702.4(ATP1A2):c.1964+18A>G
NM_000702.4(ATP1A2):c.1965-11C>T
NM_000702.4(ATP1A2):c.1965-12C>T
NM_000702.4(ATP1A2):c.1965-14C>A
NM_000702.4(ATP1A2):c.1965-15C>T
NM_000702.4(ATP1A2):c.1965-36_1965-12del rs762067275
NM_000702.4(ATP1A2):c.1965-6C>A
NM_000702.4(ATP1A2):c.1971C>T (p.Ala657=)
NM_000702.4(ATP1A2):c.2001G>A (p.Leu667=) rs2101994739
NM_000702.4(ATP1A2):c.2025C>G (p.Leu675=)
NM_000702.4(ATP1A2):c.2116-12T>C
NM_000702.4(ATP1A2):c.2116-13G>C
NM_000702.4(ATP1A2):c.2116-14C>G
NM_000702.4(ATP1A2):c.2116-16G>T
NM_000702.4(ATP1A2):c.2116-17G>T
NM_000702.4(ATP1A2):c.2116-18T>C
NM_000702.4(ATP1A2):c.2116-19G>A
NM_000702.4(ATP1A2):c.2116-4C>T
NM_000702.4(ATP1A2):c.2139T>C (p.Gly713=) rs1570994216
NM_000702.4(ATP1A2):c.2157C>T (p.Ser719=) rs2101995092
NM_000702.4(ATP1A2):c.2160T>C (p.Pro720=) rs2101995101
NM_000702.4(ATP1A2):c.2169G>A (p.Lys723=)
NM_000702.4(ATP1A2):c.2175T>G (p.Ala725=)
NM_000702.4(ATP1A2):c.2178C>T (p.Asp726=) rs2101995121
NM_000702.4(ATP1A2):c.21T>A (p.Arg7=) rs2101983772
NM_000702.4(ATP1A2):c.2241G>A (p.Leu747=)
NM_000702.4(ATP1A2):c.2265C>T (p.Ile755=) rs1558008583
NM_000702.4(ATP1A2):c.2277G>A (p.Val759=)
NM_000702.4(ATP1A2):c.2284+15T>C
NM_000702.4(ATP1A2):c.2284+17G>C
NM_000702.4(ATP1A2):c.2284+9G>C rs1312408848
NM_000702.4(ATP1A2):c.2285-20C>T rs1558008686
NM_000702.4(ATP1A2):c.2286C>A (p.Gly762=)
NM_000702.4(ATP1A2):c.228C>T (p.Asn76=)
NM_000702.4(ATP1A2):c.2295C>A (p.Ile765=)
NM_000702.4(ATP1A2):c.2316C>T (p.Ser772=)
NM_000702.4(ATP1A2):c.231C>T (p.Ala77=)
NM_000702.4(ATP1A2):c.2322C>G (p.Ala774=)
NM_000702.4(ATP1A2):c.2334C>T (p.Thr778=) rs2101995476
NM_000702.4(ATP1A2):c.2346C>G (p.Pro782=) rs754391034
NM_000702.4(ATP1A2):c.2373C>T (p.Ile791=)
NM_000702.4(ATP1A2):c.2385C>A (p.Ile795=)
NM_000702.4(ATP1A2):c.2388C>T (p.Pro796=)
NM_000702.4(ATP1A2):c.2403T>C (p.Thr801=)
NM_000702.4(ATP1A2):c.2439+11G>A
NM_000702.4(ATP1A2):c.2439+14G>A
NM_000702.4(ATP1A2):c.2440-27_2440-16del
NM_000702.4(ATP1A2):c.2440-6A>C rs1553245840
NM_000702.4(ATP1A2):c.2440-7C>G
NM_000702.4(ATP1A2):c.2463T>C (p.Tyr821=) rs932326539
NM_000702.4(ATP1A2):c.2469A>C (p.Ala823=) rs2101995829
NM_000702.4(ATP1A2):c.2484C>A (p.Ile828=)
NM_000702.4(ATP1A2):c.2502A>C (p.Arg834=)
NM_000702.4(ATP1A2):c.2529T>C (p.Asn843=) rs1330790224
NM_000702.4(ATP1A2):c.2553C>T (p.Tyr851=)
NM_000702.4(ATP1A2):c.2563+7C>A rs2101995932
NM_000702.4(ATP1A2):c.2563+9A>G rs2101995933
NM_000702.4(ATP1A2):c.2564-10C>T rs2101996106
NM_000702.4(ATP1A2):c.2564-12C>T rs1367972222
NM_000702.4(ATP1A2):c.2564-5C>T rs1570995340
NM_000702.4(ATP1A2):c.2619C>T (p.Asn873=)
NM_000702.4(ATP1A2):c.2622T>C (p.Gly874=) rs886043454
NM_000702.4(ATP1A2):c.2626C>T (p.Leu876=)
NM_000702.4(ATP1A2):c.2640A>G (p.Leu880=)
NM_000702.4(ATP1A2):c.264C>A (p.Val88=)
NM_000702.4(ATP1A2):c.2655C>T (p.Leu885=)
NM_000702.4(ATP1A2):c.2658C>T (p.Asp886=) rs2101996198
NM_000702.4(ATP1A2):c.2670G>C (p.Arg890=)
NM_000702.4(ATP1A2):c.2709+16T>A
NM_000702.4(ATP1A2):c.270C>T (p.Phe90=)
NM_000702.4(ATP1A2):c.2710-12C>T rs2101996457
NM_000702.4(ATP1A2):c.2710-15_2710-14del
NM_000702.4(ATP1A2):c.2710-16C>T
NM_000702.4(ATP1A2):c.2742G>T (p.Thr914=) rs201215311
NM_000702.4(ATP1A2):c.2811C>G (p.Arg937=)
NM_000702.4(ATP1A2):c.2840+10del
NM_000702.4(ATP1A2):c.2840+12C>A
NM_000702.4(ATP1A2):c.2840+14C>T
NM_000702.4(ATP1A2):c.2840+7G>T
NM_000702.4(ATP1A2):c.2841-18C>G
NM_000702.4(ATP1A2):c.2841-20C>T
NM_000702.4(ATP1A2):c.2841-4T>C rs2101998519
NM_000702.4(ATP1A2):c.2841-8C>T rs1553246128
NM_000702.4(ATP1A2):c.2844C>T (p.Asn948=)
NM_000702.4(ATP1A2):c.2859T>C (p.Phe953=)
NM_000702.4(ATP1A2):c.2880G>T (p.Ala960=) rs762969049
NM_000702.4(ATP1A2):c.2889C>T (p.Ala963=)
NM_000702.4(ATP1A2):c.2898T>C (p.Ser966=)
NM_000702.4(ATP1A2):c.2904C>T (p.Cys968=)
NM_000702.4(ATP1A2):c.2916T>C (p.Gly972=)
NM_000702.4(ATP1A2):c.2925C>G (p.Leu975=) rs954480042
NM_000702.4(ATP1A2):c.2937G>A (p.Pro979=) rs201879002
NM_000702.4(ATP1A2):c.2940C>T (p.Leu980=)
NM_000702.4(ATP1A2):c.2942+11C>G rs2101998633
NM_000702.4(ATP1A2):c.2942+12_2942+15del
NM_000702.4(ATP1A2):c.2942+15C>G
NM_000702.4(ATP1A2):c.2942+16G>C
NM_000702.4(ATP1A2):c.2942+19C>A rs187187416
NM_000702.4(ATP1A2):c.2942+9C>T rs1652072843
NM_000702.4(ATP1A2):c.2943-11A>G
NM_000702.4(ATP1A2):c.2943-11A>T
NM_000702.4(ATP1A2):c.2943-18C>G rs2101998767
NM_000702.4(ATP1A2):c.294C>T (p.Phe98=)
NM_000702.4(ATP1A2):c.2970C>T (p.Pro990=)
NM_000702.4(ATP1A2):c.2982C>T (p.Leu994=)
NM_000702.4(ATP1A2):c.3012C>T (p.Leu1004=)
NM_000702.4(ATP1A2):c.3019C>A (p.Arg1007=)
NM_000702.4(ATP1A2):c.3034+13A>G
NM_000702.4(ATP1A2):c.3034+16T>C rs564623438
NM_000702.4(ATP1A2):c.3034+20_3034+23del
NM_000702.4(ATP1A2):c.3035-9C>T
NM_000702.4(ATP1A2):c.3051G>A (p.Glu1017=)
NM_000702.4(ATP1A2):c.36C>G (p.Ala12=)
NM_000702.4(ATP1A2):c.381+13G>T rs772082739
NM_000702.4(ATP1A2):c.381+19C>A
NM_000702.4(ATP1A2):c.381+19C>G
NM_000702.4(ATP1A2):c.382-12del
NM_000702.4(ATP1A2):c.382-17C>T
NM_000702.4(ATP1A2):c.384A>G (p.Leu128=) rs201542400
NM_000702.4(ATP1A2):c.396G>C (p.Val132=) rs762950705
NM_000702.4(ATP1A2):c.447G>A (p.Glu149=)
NM_000702.4(ATP1A2):c.462G>A (p.Lys154=) rs2101985910
NM_000702.4(ATP1A2):c.495+10C>G rs1226066700
NM_000702.4(ATP1A2):c.495+10dup
NM_000702.4(ATP1A2):c.495+11A>C
NM_000702.4(ATP1A2):c.495+14G>A
NM_000702.4(ATP1A2):c.495+17G>A rs2101985941
NM_000702.4(ATP1A2):c.495+18G>C
NM_000702.4(ATP1A2):c.495+7T>C rs377435696
NM_000702.4(ATP1A2):c.495+7T>G
NM_000702.4(ATP1A2):c.496-11G>T rs1287709502
NM_000702.4(ATP1A2):c.496-14G>A
NM_000702.4(ATP1A2):c.496-14G>T rs529912799
NM_000702.4(ATP1A2):c.496-15T>C rs1057522605
NM_000702.4(ATP1A2):c.507G>A (p.Val169=)
NM_000702.4(ATP1A2):c.534C>A (p.Ile178=)
NM_000702.4(ATP1A2):c.567G>A (p.Val189=) rs1651515024
NM_000702.4(ATP1A2):c.573G>A (p.Val191=)
NM_000702.4(ATP1A2):c.57G>A (p.Gly19=)
NM_000702.4(ATP1A2):c.582A>T (p.Gly194=)
NM_000702.4(ATP1A2):c.600C>T (p.Asp200=) rs1060504129
NM_000702.4(ATP1A2):c.631-14T>C rs371081594
NM_000702.4(ATP1A2):c.631-14T>G
NM_000702.4(ATP1A2):c.631-16A>T rs571618030
NM_000702.4(ATP1A2):c.631-17C>A rs368195019
NM_000702.4(ATP1A2):c.631-17C>T rs368195019
NM_000702.4(ATP1A2):c.631-18G>A
NM_000702.4(ATP1A2):c.631-9C>T rs1194833342
NM_000702.4(ATP1A2):c.642A>T (p.Ser214=)
NM_000702.4(ATP1A2):c.654A>C (p.Gly218=)
NM_000702.4(ATP1A2):c.660G>C (p.Ser220=)
NM_000702.4(ATP1A2):c.666C>G (p.Pro222=)
NM_000702.4(ATP1A2):c.672C>A (p.Thr224=) rs1309171467
NM_000702.4(ATP1A2):c.672C>G (p.Thr224=)
NM_000702.4(ATP1A2):c.699C>T (p.Asn233=) rs1258932331
NM_000702.4(ATP1A2):c.744T>C (p.Val248=)
NM_000702.4(ATP1A2):c.748+16G>T
NM_000702.4(ATP1A2):c.748+18C>T rs1311948495
NM_000702.4(ATP1A2):c.748+20C>G
NM_000702.4(ATP1A2):c.749-16C>T
NM_000702.4(ATP1A2):c.749-20G>T rs2101988320
NM_000702.4(ATP1A2):c.749-4G>A
NM_000702.4(ATP1A2):c.75G>A (p.Gln25=) rs2101983843
NM_000702.4(ATP1A2):c.762C>T (p.Gly254=)
NM_000702.4(ATP1A2):c.798C>G (p.Gly266=)
NM_000702.4(ATP1A2):c.810T>G (p.Thr270=)
NM_000702.4(ATP1A2):c.813C>G (p.Leu271=) rs747740289
NM_000702.4(ATP1A2):c.834G>A (p.Gly278=)
NM_000702.4(ATP1A2):c.843C>A (p.Pro281=) rs1476316736
NM_000702.4(ATP1A2):c.876G>A (p.Leu292=)
NM_000702.4(ATP1A2):c.885G>C (p.Gly295=)
NM_000702.4(ATP1A2):c.891T>C (p.Ala297=)
NM_000702.4(ATP1A2):c.906C>G (p.Val302=)
NM_000702.4(ATP1A2):c.909C>T (p.Ser303=) rs1422290691
NM_000702.4(ATP1A2):c.921C>A (p.Leu307=)
NM_000702.4(ATP1A2):c.921C>G (p.Leu307=)
NM_000702.4(ATP1A2):c.930C>T (p.Ile310=) rs778670666
NM_000702.4(ATP1A2):c.963C>T (p.Phe321=) rs1651629750
NM_000702.4(ATP1A2):c.96G>A (p.Glu32=)
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del) rs772989979
NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup) rs16054
NM_001165963.4(SCN1A):c.1171-10_1171-9del rs372840031
NM_001165963.4(SCN1A):c.1754G>C (p.Gly585Ala) rs1225530396
NM_001165963.4(SCN1A):c.2044-5del rs549232924
NM_001165963.4(SCN1A):c.2177-8dup rs747086735
NM_001165963.4(SCN1A):c.2415+9A>G rs2105827142
NM_001165963.4(SCN1A):c.602+6_602+7dup rs577627288

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