ClinVar Miner

List of variants in gene SCN1A reported as uncertain significance for Dravet syndrome

Included ClinVar conditions (13):
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Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790 0.00011
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) rs148442069 0.00011
NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=) rs139403702 0.00006
NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr) rs755962326 0.00005
NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly) rs777120925 0.00005
NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His) rs184524479 0.00004
NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys) rs769582667 0.00003
NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr) rs1247949520 0.00003
NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser) rs561912072 0.00002
NM_001165963.4(SCN1A):c.886A>G (p.Ile296Val) rs373772491 0.00002
NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met) rs774937055 0.00001
NM_001165963.4(SCN1A):c.2477A>G (p.Tyr826Cys) rs1422284356 0.00001
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile) rs745378416 0.00001
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys) rs754032480 0.00001
NM_001165963.4(SCN1A):c.-142G>A rs2106003538
NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu) rs2105852411
NM_001165963.4(SCN1A):c.1436T>C (p.Leu479Pro) rs1697679015
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn) rs1057518703
NM_001165963.4(SCN1A):c.1898C>T (p.Ala633Val) rs1574215846
NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala) rs1574214843
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg) rs1398374184
NM_001165963.4(SCN1A):c.2048C>A (p.Thr683Lys)
NM_001165963.4(SCN1A):c.2177-2A>T rs1436792531
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly) rs1684663181
NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val) rs1696653174
NM_001165963.4(SCN1A):c.2739T>C (p.Gly913=)
NM_001165963.4(SCN1A):c.2915T>G (p.Phe972Cys) rs2105805621
NM_001165963.4(SCN1A):c.38G>T (p.Ser13Ile) rs1684704155
NM_001165963.4(SCN1A):c.404T>C (p.Met135Thr) rs1574290850
NM_001165963.4(SCN1A):c.542A>G (p.Glu181Gly) rs1559245947
NM_001165963.4(SCN1A):c.550A>T (p.Thr184Ser) rs368798811
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.603-3C>G
NM_001165963.4(SCN1A):c.635T>C (p.Val212Ala) rs551068385
NM_001165963.4(SCN1A):c.761C>T (p.Thr254Ile)
NM_001165963.4(SCN1A):c.793G>C (p.Gly265Arg)

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