ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu)
NM_001032221.6(STXBP1):c.303_305del (p.Ala102del)
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)
NM_006920.6(SCN1A):c.1077T>A (p.Asn359Lys)
NM_006920.6(SCN1A):c.1204T>A (p.Phe402Ile)
NM_006920.6(SCN1A):c.1810dup (p.Arg604fs)
NM_006920.6(SCN1A):c.2317_2318del (p.Phe773fs) rs1553543215
NM_006920.6(SCN1A):c.2923_2924CT[1] (p.Phe976fs) rs794729207
NM_006920.6(SCN1A):c.3396+1G>T
NM_006920.6(SCN1A):c.354G>T (p.Arg118Ser) rs121917959
NM_006920.6(SCN1A):c.3672+5G>A rs1060502189
NM_006920.6(SCN1A):c.384-12A>C
NM_006920.6(SCN1A):c.404T>C (p.Met135Thr)
NM_006920.6(SCN1A):c.4113del (p.Asp1372fs)
NM_006920.6(SCN1A):c.4294G>A (p.Asp1432Asn)
NM_006920.6(SCN1A):c.4411A>C (p.Ile1471Leu) rs794729200
NM_006920.6(SCN1A):c.4829T>C (p.Leu1610Pro)
NM_006920.6(SCN1A):c.5042T>C (p.Phe1681Ser) rs121918778
NM_006920.6(SCN1A):c.5228G>A (p.Gly1743Glu)
NM_006920.6(SCN1A):c.683C>T (p.Ser228Leu)
NM_006920.6(SCN1A):c.830G>A (p.Cys277Tyr)
NM_006920.6(SCN1A):c.942G>T (p.Trp314Cys)

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