ClinVar Miner

List of variants in gene SCN1A reported as uncertain significance for Dravet syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) rs886042528
NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr) rs755962326
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys) rs769582667
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu)
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His) rs184524479
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=) rs139403702
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg)
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly)
NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val)
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) rs148442069
NM_006920.6(SCN1A):c.1898C>T (p.Ala633Val) rs1574215846
NM_006920.6(SCN1A):c.2010+2T>C rs1574214843
NM_006920.6(SCN1A):c.2144-2A>T rs1436792531
NM_006920.6(SCN1A):c.2653G>A (p.Val885Ile) rs745378416
NM_006920.6(SCN1A):c.404T>C (p.Met135Thr) rs1574290850
NM_006920.6(SCN1A):c.602+1G>A
NM_006920.6(SCN1A):c.635T>C (p.Val212Ala) rs551068385

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