ClinVar Miner

List of variants reported as likely pathogenic for familial hemiplegic migraine

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.2563+2T>C rs775008062 0.00003
NM_000702.4(ATP1A2):c.1811G>A (p.Arg604Gln) rs747238010 0.00002
NM_000702.4(ATP1A2):c.2876C>T (p.Thr959Met) rs1226796744 0.00002
NM_000702.4(ATP1A2):c.1042C>T (p.Arg348Cys) rs765818392 0.00001
NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His) rs765909830 0.00001
NM_000702.4(ATP1A2):c.1888A>C (p.Ile630Leu) rs1382260409 0.00001
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn) rs121918614 0.00001
NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr) rs121918617 0.00001
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile) rs1296629000 0.00001
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val) rs886039456 0.00001
NM_000702.4(ATP1A2):c.1022G>A (p.Cys341Tyr)
NM_000702.4(ATP1A2):c.1103C>T (p.Thr368Met) rs746383817
NM_000702.4(ATP1A2):c.12+1G>A
NM_000702.4(ATP1A2):c.12+2T>A
NM_000702.4(ATP1A2):c.1652-1G>T
NM_000702.4(ATP1A2):c.1965-2A>G
NM_000702.4(ATP1A2):c.2135C>T (p.Thr712Met)
NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr) rs28933400
NM_000702.4(ATP1A2):c.2284+1G>A
NM_000702.4(ATP1A2):c.2424C>G (p.Asp808Glu) rs1570994712
NM_000702.4(ATP1A2):c.2434G>C (p.Asp812His) rs1558008759
NM_000702.4(ATP1A2):c.2485A>G (p.Met829Val) rs2101995847
NM_000702.4(ATP1A2):c.2486T>C (p.Met829Thr)
NM_000702.4(ATP1A2):c.2501G>T (p.Arg834Leu)
NM_000702.4(ATP1A2):c.2564G>A (p.Gly855Glu) rs149144720
NM_000702.4(ATP1A2):c.2809C>T (p.Arg937Cys) rs1558009266
NM_000702.4(ATP1A2):c.2809del (p.Arg937fs) rs1651974671
NM_000702.4(ATP1A2):c.2810G>A (p.Arg937His) rs1553245943
NM_000702.4(ATP1A2):c.3020G>A (p.Arg1007Gln)
NM_000702.4(ATP1A2):c.381+1G>A rs2101985522
NM_000702.4(ATP1A2):c.495+2T>C
NM_000702.4(ATP1A2):c.496-1G>A rs773117459
NM_000702.4(ATP1A2):c.604C>T (p.Arg202Trp) rs1219118149
NM_000702.4(ATP1A2):c.748+1G>C
NM_000702.4(ATP1A2):c.788C>T (p.Thr263Met) rs777400961
NM_000702.4(ATP1A2):c.902G>A (p.Gly301Glu)
NM_000702.4(ATP1A2):c.910TTC[1] (p.Phe305del)
NM_001127222.2(CACNA1A):c.1060C>T (p.Leu354Phe) rs1555767914
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) rs2058057299
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met) rs374686479
NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser) rs2145004155
NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del) rs2144980726
NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu) rs2144980363
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met) rs764839814
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter) rs2057372365
NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu) rs2144833336
NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro) rs2056768058
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr) rs2056767982
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro) rs2144773045
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln) rs1555745467
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn) rs2056767062
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4534A>G (p.Thr1512Ala)
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn) rs1555740805
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro) rs1568447650
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro) rs1057519429
NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr) rs2144647872
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu) rs1064794261
NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala) rs2144622461
NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro) rs2144523407
NM_001127222.2(CACNA1A):c.816T>A (p.Cys272Ter)
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.978+1G>C rs2145245078
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1922_1923delinsATC (p.Met641fs) rs1697433995
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_001165963.4(SCN1A):c.2589+2dup
NM_001165963.4(SCN1A):c.264+5G>A rs794726762
NM_001165963.4(SCN1A):c.2732T>G (p.Leu911Arg)
NM_001165963.4(SCN1A):c.4019T>C (p.Leu1340Pro) rs1691091949
NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile) rs1131691775
NM_001165963.4(SCN1A):c.4924A>G (p.Arg1642Gly)
NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser) rs1553520425
NM_001165963.4(SCN1A):c.602+3_602+6del rs1698937795
NM_001165963.4(SCN1A):c.680T>C (p.Ile227Thr) rs121917937
NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser) rs2105889878
NM_001165963.4(SCN1A):c.941G>A (p.Trp314Ter) rs1698574524

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