List of variants in gene SCN1A reported as uncertain significance for Generalized epilepsy with febrile seizures plus, type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 41

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=)	rs114137271	0.00322
NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val)	rs201870762	0.00030
NM_001165963.4(SCN1A):c.1378-3T>C	rs150964803	0.00016
NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln)	rs145670933	0.00016
NM_001165963.4(SCN1A):c.2649C>T (p.Ile883=)	rs543436497	0.00008
NM_001165963.4(SCN1A):c.2176+11A>C	rs201604887	0.00006
NM_001165963.4(SCN1A):c.333A>G (p.Leu111=)	rs201592683	0.00006
NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr)	rs755962326	0.00005
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.890C>T (p.Thr297Ile)	rs121918771	0.00003
NM_001165963.4(SCN1A):c.1882T>A (p.Ser628Thr)	rs752639991	0.00002
NM_001165963.4(SCN1A):c.2234T>G (p.Phe745Cys)	rs778852888	0.00002
NM_001165963.4(SCN1A):c.2838C>T (p.Arg946=)	rs764174474	0.00002
NM_001165963.4(SCN1A):c.3012T>C (p.Asp1004=)	rs748537030	0.00002
NM_001165963.4(SCN1A):c.3044C>T (p.Ala1015Val)	rs772487501	0.00002
NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met)	rs774937055	0.00001
NM_001165963.4(SCN1A):c.1753G>C (p.Gly585Arg)	rs753050564	0.00001
NM_001165963.4(SCN1A):c.2006C>T (p.Pro669Leu)	rs570326929	0.00001
NM_001165963.4(SCN1A):c.2508C>T (p.Asp836=)	rs575554223	0.00001
NM_001165963.4(SCN1A):c.560G>A (p.Arg187Gln)	rs777631884	0.00001
NM_001165963.4(SCN1A):c.606C>T (p.Tyr202=)	rs374555589	0.00001
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys)	rs754032480	0.00001
NM_001165963.4(SCN1A):c.83G>A (p.Arg28His)	rs398123601	0.00001
NM_001165963.4(SCN1A):c.1033T>A (p.Cys345Ser)
NM_001165963.4(SCN1A):c.1377+3A>G
NM_001165963.4(SCN1A):c.1719C>G (p.Ser573Arg)	rs748767737
NM_001165963.4(SCN1A):c.1739G>T (p.Arg580Leu)
NM_001165963.4(SCN1A):c.2044-14A>T	rs537722606
NM_001165963.4(SCN1A):c.2164A>C (p.Asn722His)	rs1341631584
NM_001165963.4(SCN1A):c.2459T>C (p.Ile820Thr)	rs886055045
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met)	rs796052986
NM_001165963.4(SCN1A):c.2839G>C (p.Val947Leu)	rs796052986
NM_001165963.4(SCN1A):c.3046G>A (p.Val1016Met)	rs370857858
NM_001165963.4(SCN1A):c.384-5C>T	rs781505393
NM_001165963.4(SCN1A):c.565C>G (p.Pro189Ala)	rs886055046
NM_001165963.4(SCN1A):c.751A>G (p.Met251Val)	rs2105890375
NM_001165963.4(SCN1A):c.807C>A (p.Phe269Leu)	rs2105889917
NM_001165963.4(SCN1A):c.836A>G (p.Gln279Arg)
NM_001165963.4(SCN1A):c.841C>T (p.Pro281Ser)	rs1553549660
NM_001165963.4(SCN1A):c.926_931del (p.Val309_Phe310del)	rs2105888808

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