ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as pathogenic for genetic generalized epilepsy

Included ClinVar conditions (66):
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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys) rs121918811 0.00001
NM_001165963.4(SCN1A):c.2616_3206delinsAAGTTGGCAAAA (p.Trp873_Ile1069delinsSerTrpGlnAsn)
NM_001165963.4(SCN1A):c.3383_3390del (p.Asn1128fs) rs2105793286
NM_001165963.4(SCN1A):c.3530C>G (p.Pro1177Arg) rs752060724
NM_001165963.4(SCN1A):c.3550+2T>G rs1574068971
NM_001165963.4(SCN1A):c.3610T>C (p.Trp1204Arg) rs121917930
NM_001165963.4(SCN1A):c.3646G>C (p.Glu1216Gln)
NM_001165963.4(SCN1A):c.3705+1G>A rs794726744
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.3762T>A (p.Tyr1254Ter) rs1240187329
NM_001165963.4(SCN1A):c.3809A>C (p.Lys1270Thr) rs121918626
NM_001165963.4(SCN1A):c.3824G>A (p.Gly1275Asp) rs796053000
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg) rs796053001
NM_001165963.4(SCN1A):c.3950C>G (p.Thr1317Arg) rs2105570237
NM_001165963.4(SCN1A):c.3967C>A (p.Pro1323Thr)
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4002+1G>T rs1692153643
NM_001165963.4(SCN1A):c.4003-1G>C rs1574007140
NM_001165963.4(SCN1A):c.4024G>T (p.Gly1342Ter) rs1553525358
NM_001165963.4(SCN1A):c.4055T>A (p.Leu1352Gln) rs794726821
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro) rs794726821
NM_001165963.4(SCN1A):c.4057G>C (p.Val1353Leu) rs121917954
NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp) rs865867764
NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter) rs794726784
NM_001165963.4(SCN1A):c.4283T>C (p.Val1428Ala) rs121918627
NM_001165963.4(SCN1A):c.4284+2del rs2105507548
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg) rs121918789
NM_001165963.4(SCN1A):c.4331C>A (p.Ser1444Tyr) rs1690572580
NM_001165963.4(SCN1A):c.4429del (p.Leu1477fs) rs2105475986
NM_001165963.4(SCN1A):c.4477-1C>T rs1553521567
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4581+1G>A rs1689986058
NM_001165963.4(SCN1A):c.4620_4627del (p.Arg1540fs)
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val) rs121917975
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) rs121917993
NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe) rs121918630
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) rs199727342
NM_001165963.4(SCN1A):c.4913T>A (p.Ile1638Asn)
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) rs794726759
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His) rs121918622
NM_001165963.4(SCN1A):c.4968C>G (p.Ile1656Met) rs121917955
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) rs121917994
NM_001165963.4(SCN1A):c.4999del (p.Leu1667fs) rs2105433855
NM_001165963.4(SCN1A):c.5005G>A (p.Ala1669Thr) rs2105433731
NM_001165963.4(SCN1A):c.5120T>C (p.Phe1707Ser) rs2105432236
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) rs121918629
NM_001165963.4(SCN1A):c.5177G>C (p.Trp1726Ser) rs2105431458
NM_001165963.4(SCN1A):c.5318_5324del (p.Ser1773fs) rs2105429397
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr) rs121917980
NM_001165963.4(SCN1A):c.5388T>A (p.Ser1796Arg) rs1689228485
NM_001165963.4(SCN1A):c.5492T>A (p.Phe1831Tyr) rs121918748
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.5711del (p.Gln1904fs) rs2105424093
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr) rs121917981
NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His) rs2105423415
NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs) rs587780446

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