ClinVar Miner

List of variants studied for Dravet syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu) rs866861998
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys) rs200415928
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.4482A>G (p.Gln1494=) rs1558945594
NM_006920.6(SCN1A):c.1343T>C (p.Ile448Thr) rs755962326
NM_006920.6(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_006920.6(SCN1A):c.1803C>T (p.Asn601=) rs139403702
NM_006920.6(SCN1A):c.5184C>T (p.Pro1728=) rs149315236
NM_006920.6(SCN1A):c.602+1G>A rs794726827

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