ClinVar Miner

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

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys) rs201827489 0.00022
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) rs121918619 0.00006
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) rs137854608 0.00004
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_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702 0.00001
NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His) rs201748668 0.00001
NM_030662.4(MAP2K2):c.514A>G (p.Lys172Glu) rs1413580671 0.00001
GRCh37/hg19 Xq28(chrX:153575976-153586768)
GRCh37/hg19 Xq28(chrX:153588672-153609996)
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000435.3(NOTCH3):c.1450T>G (p.Cys484Gly) rs1555728965
NM_000702.4(ATP1A2):c.1531A>T (p.Ile511Phe) rs1651725395
NM_000702.4(ATP1A2):c.2138G>T (p.Gly713Val) rs1651907492
NM_001122764.3(PPOX):c.1353T>G (p.Tyr451Ter) rs148292941
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
NM_001292034.3(TAB2):c.1039C>T (p.Arg347Ter) rs1057518422
NM_001382567.1(STIM1):c.1627T>A (p.Ser543Thr) rs1554971682
NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu) rs1553403624
NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu) rs757962437

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