ClinVar Miner

List of variants reported as pathogenic for Dravet syndrome by Athena Diagnostics Inc

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_006920.6(SCN1A):c.1028+1G>T rs863225030
NM_006920.6(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_006920.6(SCN1A):c.1216G>T (p.Val406Phe) rs121918768
NM_006920.6(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_006920.6(SCN1A):c.2101C>T (p.Arg701Ter) rs794726730
NM_006920.6(SCN1A):c.249C>A (p.Tyr83Ter) rs863225031
NM_006920.6(SCN1A):c.2556+3A>T rs794726775
NM_006920.6(SCN1A):c.264+5G>A rs794726762
NM_006920.6(SCN1A):c.2759G>A (p.Arg920His) rs794726718
NM_006920.6(SCN1A):c.2803C>T (p.Arg935Cys) rs121918775
NM_006920.6(SCN1A):c.2804G>A (p.Arg935His) rs121917971
NM_006920.6(SCN1A):c.3273C>A (p.Tyr1091Ter) rs863225032
NM_006920.6(SCN1A):c.3604C>T (p.Arg1202Ter) rs794726710
NM_006920.6(SCN1A):c.3624G>A (p.Trp1208Ter) rs863225033
NM_006920.6(SCN1A):c.3700C>T (p.Arg1234Ter) rs727504136
NM_006920.6(SCN1A):c.3819del (p.Trp1273fs) rs863225034
NM_006920.6(SCN1A):c.3952C>T (p.Arg1318Ter) rs796053004
NM_006920.6(SCN1A):c.4233T>A (p.Tyr1411Ter) rs863225035
NM_006920.6(SCN1A):c.4443+1A>G rs796053014
NM_006920.6(SCN1A):c.4444-2A>G rs863225036
NM_006920.6(SCN1A):c.4873C>T (p.Arg1625Ter) rs199727342
NM_006920.6(SCN1A):c.4909C>T (p.Arg1637Cys) rs121918791
NM_006920.6(SCN1A):c.5403G>A (p.Trp1801Ter) rs863225037
NM_006920.6(SCN1A):c.5623C>T (p.Arg1875Ter) rs779614747
NM_006920.6(SCN1A):c.992dup (p.Leu331fs) rs863225038

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