List of variants in gene combination LOC102724058, SCN1A reported as benign by Invitae

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: 39

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr)	rs2298771	0.73872
NM_001165963.4(SCN1A):c.4002+1985C>T	rs59010534	0.03965
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=)	rs36031496	0.03789
NM_001165963.4(SCN1A):c.4002+2052A>G	rs58140851	0.01036
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr)	rs35735053	0.00876
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=)	rs140237315	0.00855
NM_001165963.4(SCN1A):c.4002+2422A>G	rs185755900	0.00310
NM_001165963.4(SCN1A):c.4002+2261A>C	rs539758485	0.00217
NM_001165963.4(SCN1A):c.3550+11G>T	rs202142409	0.00194
NM_001165963.4(SCN1A):c.3705+12T>G	rs147032678	0.00181
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=)	rs78041051	0.00175
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)	rs121918799	0.00159
NM_001165963.4(SCN1A):c.3804T>C (p.Leu1268=)	rs143980709	0.00159
NM_001165963.4(SCN1A):c.4002+2088C>T	rs138488822	0.00159
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=)	rs145296488	0.00114
NM_001165963.4(SCN1A):c.5571G>A (p.Val1857=)	rs142019382	0.00078
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=)	rs149579028	0.00073
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly)	rs121917956	0.00073
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=)	rs142910512	0.00048
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=)	rs148546224	0.00047
NM_001165963.4(SCN1A):c.4002+2383G>T	rs191448880	0.00041
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=)	rs150570058	0.00040
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)	rs121918802	0.00016
NM_001165963.4(SCN1A):c.4905C>T (p.Phe1635=)	rs774858072	0.00005
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)	rs121918807	0.00003
NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=)	rs375896308	0.00002
NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile)	rs1260685558	0.00002
NM_001165963.4(SCN1A):c.4923T>C (p.Ala1641=)	rs369650500	0.00002
NM_001165963.4(SCN1A):c.3477C>T (p.Ile1159=)	rs761878186	0.00001
NM_001165963.4(SCN1A):c.3478G>A (p.Gly1160Ser)	rs776752552	0.00001
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val)	rs373967247	0.00001
NM_001165963.4(SCN1A):c.3524T>C (p.Leu1175Pro)
NM_001165963.4(SCN1A):c.3705+10del	rs570862962
NM_001165963.4(SCN1A):c.3706-12dup	rs1692588027
NM_001165963.4(SCN1A):c.3880-11del
NM_001165963.4(SCN1A):c.4002+2650del
NM_001165963.4(SCN1A):c.4284+18del
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=)	rs374087499
NM_001165963.4(SCN1A):c.5739A>G (p.Lys1913=)	rs554861427

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