ClinVar Miner

List of variants studied for Familial hemiplegic migraine by Illumina Laboratory Services, Illumina

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.*172dup rs113696479 0.03631
NM_000702.4(ATP1A2):c.*1630C>T rs886045433 0.00001
NM_000702.4(ATP1A2):c.*1241del rs886045426
NM_000702.4(ATP1A2):c.*1333dup rs538086614
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.13-11_13-8del rs373796693
NM_000702.4(ATP1A2):c.528G>T (p.Met176Ile) rs867416764
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.1171-10_1171-9del rs372840031
NM_001165963.4(SCN1A):c.2044-5del rs549232924
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001165963.4(SCN1A):c.2177-8dup rs747086735

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