ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as likely pathogenic for Dravet syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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NM_006920.6(SCN1A):c.3672+5G>A rs1060502189
NM_006920.6(SCN1A):c.4007T>A (p.Ile1336Asn) rs1553525325
NM_006920.6(SCN1A):c.4100A>T (p.Asn1367Ile)
NM_006920.6(SCN1A):c.4113del (p.Asp1372fs)
NM_006920.6(SCN1A):c.4294G>A (p.Asp1432Asn)
NM_006920.6(SCN1A):c.4319C>T (p.Pro1440Leu) rs121917945
NM_006920.6(SCN1A):c.4411A>C (p.Ile1471Leu) rs794729200
NM_006920.6(SCN1A):c.4781A>T (p.Asn1594Ile) rs1057519533
NM_006920.6(SCN1A):c.4789G>T (p.Asp1597Tyr) rs121917915
NM_006920.6(SCN1A):c.4829T>C (p.Leu1610Pro)
NM_006920.6(SCN1A):c.4940C>T (p.Thr1647Met) rs121917922
NM_006920.6(SCN1A):c.4964C>T (p.Ser1655Phe) rs794726760
NM_006920.6(SCN1A):c.5042T>C (p.Phe1681Ser) rs121918778
NM_006920.6(SCN1A):c.5228G>A (p.Gly1743Glu)
NM_006920.6(SCN1A):c.5318T>C (p.Val1773Ala) rs1057518671

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