ClinVar Miner

List of variants reported as likely pathogenic for Dravet syndrome by Mendelics

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) rs1553543215
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs) rs794729207
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser) rs121917959
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu) rs794729200
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) rs121918778
NM_006920.6(SCN1A):c.1077T>A (p.Asn359Lys) rs1574240716
NM_006920.6(SCN1A):c.1204T>A (p.Phe402Ile) rs796053094
NM_006920.6(SCN1A):c.1810dup (p.Arg604fs) rs1574217232
NM_006920.6(SCN1A):c.3396+1G>T rs1574166948
NM_006920.6(SCN1A):c.3672+5G>A rs1060502189
NM_006920.6(SCN1A):c.384-12A>C rs1574291210
NM_006920.6(SCN1A):c.4113del (p.Asp1372fs) rs1574005699
NM_006920.6(SCN1A):c.4294G>A (p.Asp1432Asn) rs1573991676
NM_006920.6(SCN1A):c.4829T>C (p.Leu1610Pro) rs1573953706
NM_006920.6(SCN1A):c.5228G>A (p.Gly1743Glu) rs796053036
NM_006920.6(SCN1A):c.683C>T (p.Ser228Leu) rs1574271644
NM_006920.6(SCN1A):c.830G>A (p.Cys277Tyr) rs1574264920
NM_006920.6(SCN1A):c.942G>T (p.Trp314Cys) rs1553549471

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