List of variants in gene combination LOC102724058, SCN1A reported as uncertain significance for not specified

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)	rs146878122	0.00019
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)	rs201079458	0.00006
NM_001165963.4(SCN1A):c.4345C>T (p.Leu1449Phe)	rs768638174	0.00004
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu)	rs149225252	0.00003
NM_001165963.4(SCN1A):c.3165C>T (p.Asn1055=)	rs797045939	0.00002
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser)	rs398123591	0.00001
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)	rs121918801	0.00001
NM_001165963.4(SCN1A):c.5346C>T (p.Ile1782=)	rs121918763	0.00001
NM_001165963.4(SCN1A):c.3165CAA[1] (p.Asn1056del)	rs796053069
NM_001165963.4(SCN1A):c.3705+10del	rs570862962
NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg)	rs749638533
NM_001165963.4(SCN1A):c.3968C>T (p.Pro1323Leu)	rs1057521746
NM_001165963.4(SCN1A):c.4002+6A>G	rs1553529408
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser)	rs121918764
NM_001165963.4(SCN1A):c.4916G>A (p.Arg1639His)
NM_001165963.4(SCN1A):c.4918C>T (p.Leu1640Phe)	rs1553520463
NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys)	rs121918777
NM_001165963.4(SCN1A):c.5209A>G (p.Lys1737Glu)	rs1553520293
NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser)	rs797045940
NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys)	rs121918813
NM_001165963.4(SCN1A):c.5513C>G (p.Pro1838Arg)	rs1553520084
NM_001165963.4(SCN1A):c.5531C>T (p.Pro1844Leu)	rs2105426648
NM_001165963.4(SCN1A):c.5534A>C (p.Asn1845Thr)	rs1689190343
NM_001165963.4(SCN1A):c.5632G>C (p.Glu1878Gln)	rs148703212
NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln)	rs1559100385
NM_001165963.4(SCN1A):c.5770_5790del (p.Arg1924_Leu1930del)	rs796053088
NM_001165963.4(SCN1A):c.5798G>A (p.Arg1933Gln)	rs556893466

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