ClinVar Miner

List of variants studied for Dravet syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NM_002977.3(SCN9A):c.1238T>C (p.Ile413Thr) rs200689195
NM_002977.3(SCN9A):c.1280T>C (p.Leu427Ser) rs192406412
NM_002977.3(SCN9A):c.1604C>T (p.Ser535Leu) rs201354321
NM_002977.3(SCN9A):c.184A>G (p.Ile62Val) rs121908920
NM_002977.3(SCN9A):c.1973G>A (p.Arg658His) rs200374987
NM_002977.3(SCN9A):c.2318C>G (p.Thr773Ser) rs200624920
NM_002977.3(SCN9A):c.3505A>G (p.Asn1169Asp) rs750269576
NM_002977.3(SCN9A):c.4335C>G (p.Ile1445Met) rs1362318488
NM_002977.3(SCN9A):c.4787C>T (p.Thr1596Ile) rs200470541
NM_002977.3(SCN9A):c.553C>T (p.Arg185Cys) rs202083986
NM_002977.3(SCN9A):c.5787C>G (p.Asn1929Lys) rs371454107
NM_002977.3(SCN9A):c.5915G>T (p.Ser1972Ile) rs770802841
NM_002977.3(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_003165.4(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_003165.4(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_006920.6(SCN1A):c.136G>A (p.Glu46Lys) rs769582667
NM_006920.6(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_006920.6(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_006920.6(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_006920.6(SCN1A):c.2759G>A (p.Arg920His) rs794726718
NM_006920.6(SCN1A):c.3065T>C (p.Phe1022Ser) rs796052992
NM_006920.6(SCN1A):c.3448G>A (p.Ala1150Thr) rs201079458
NM_006920.6(SCN1A):c.379C>G (p.His127Asp) rs148442069
NM_006920.6(SCN1A):c.4514C>A (p.Ser1505Ter) rs139300715
NM_006920.6(SCN1A):c.4579G>A (p.Val1527Ile) rs780360360
NM_006920.6(SCN1A):c.4901G>A (p.Arg1634Gln) rs121917976
NM_006920.6(SCN1A):c.5350G>A (p.Glu1784Lys) rs121918813
NM_006920.6(SCN1A):c.5837A>G (p.Glu1946Gly) rs121918802
NM_006920.6(SCN1A):c.5918C>A (p.Pro1973His) rs146733308
NM_006920.6(SCN1A):c.5955A>C (p.Lys1985Asn) rs371243629
NM_006920.6(SCN1A):c.661C>G (p.Leu221Val) rs886039456
NM_006920.6(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_006920.6(SCN1A):c.677C>T (p.Thr226Met) rs121917984

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