ClinVar Miner

List of variants studied for obsolete Dravet syndrome by OMIM

Included ClinVar conditions (19):
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ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NC_000002.12:g.(?_165985812)_(166002754_166009718)del
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter) rs121918321
NM_001032221.6(STXBP1):c.1328T>G (p.Met443Arg) rs121918319
NM_001032221.6(STXBP1):c.1336C>T (p.Leu446Phe)
NM_001032221.6(STXBP1):c.1631G>A (p.Gly544Asp) rs121918317
NM_001032221.6(STXBP1):c.169+1G>A rs587776641
NM_001032221.6(STXBP1):c.251T>A (p.Val84Asp) rs121918320
NM_001032221.6(STXBP1):c.539G>A (p.Cys180Tyr) rs121918318
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys) rs587777310
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001127644.2(GABRA1):c.751G>A (p.Gly251Ser) rs587777307
NM_001127644.2(GABRA1):c.917A>C (p.Lys306Thr) rs587777309
NM_001127644.2(GABRA1):c.995C>T (p.Ala332Val) rs1755338662
NM_001165963.4(SCN1A):c.2584C>G (p.Arg862Gly) rs397514459
NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe) rs121918625
NM_001165963.4(SCN1A):c.3609del (p.Gln1203fs) rs1574061044
NM_001165963.4(SCN1A):c.4002+1195_4284+346delinsTATT
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe) rs121918630
NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu) rs397514458
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) rs121918629
NM_001165963.4(SCN1A):c.657_658del (p.Arg219fs) rs1574272192
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624

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