ClinVar Miner

List of variants studied for familial hemiplegic migraine by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (21):
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ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) rs121918619 0.00006
NM_001127222.2(CACNA1A):c.3989+11T>C rs762686149 0.00004
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln) rs768048563 0.00003
NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro) rs2054687187 0.00002
NM_000702.4(ATP1A2):c.1531A>T (p.Ile511Phe) rs1651725395
NM_000702.4(ATP1A2):c.2138G>T (p.Gly713Val) rs1651907492
NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro) rs2058520816
NM_001127222.2(CACNA1A):c.1555+3_1555+6del rs2058143459
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter) rs2057372365
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3901G>A (p.Val1301Ile) rs779292782
NM_001127222.2(CACNA1A):c.4089+18T>G rs1600198282
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001165963.4(SCN1A):c.1028+2T>C rs1698170849
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.1754G>C (p.Gly585Ala) rs1225530396
NM_001165963.4(SCN1A):c.1843G>T (p.Gly615Ter) rs1271824691
NM_001165963.4(SCN1A):c.1922_1923delinsATC (p.Met641fs) rs1697433995
NM_001165963.4(SCN1A):c.2177-10_2177-9insA rs1553543440
NM_001165963.4(SCN1A):c.264+5G>A rs794726762
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_001165963.4(SCN1A):c.4019T>C (p.Leu1340Pro) rs1691091949
NM_001165963.4(SCN1A):c.4772A>T (p.Lys1591Ile) rs1689685377
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser) rs1553520425
NM_001165963.4(SCN1A):c.5341T>C (p.Tyr1781His) rs1689242255
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.941G>A (p.Trp314Ter) rs1698574524

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