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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln)	rs121917912	0.00001
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp)	rs796053043	0.00001
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val)	rs915676341	0.00001
NM_001165963.4(SCN1A):c.3281A>T (p.Lys1094Ile)	rs2105794473
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro)	rs1553525337
NM_001165963.4(SCN1A):c.4043T>C (p.Met1348Thr)	rs1559128483
NM_001165963.4(SCN1A):c.4122C>G (p.Tyr1374Ter)
NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile)	rs1131691775
NM_001165963.4(SCN1A):c.4265A>T (p.Tyr1422Phe)	rs121917913
NM_001165963.4(SCN1A):c.4284+4A>C	rs1691026372
NM_001165963.4(SCN1A):c.4322C>T (p.Ala1441Val)	rs2105486615
NM_001165963.4(SCN1A):c.4475_4476+1del
NM_001165963.4(SCN1A):c.4476+5G>T	rs1553522266
NM_001165963.4(SCN1A):c.4493T>C (p.Ile1498Thr)
NM_001165963.4(SCN1A):c.4529C>T (p.Ala1510Val)	rs796053019
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr)	rs796053021
NM_001165963.4(SCN1A):c.4576C>A (p.Pro1526Thr)
NM_001165963.4(SCN1A):c.4630G>A (p.Asp1544Asn)
NM_001165963.4(SCN1A):c.4778T>A (p.Ile1593Asn)
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)	rs121917993
NM_001165963.4(SCN1A):c.4867G>C (p.Glu1623Gln)
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5116_5117del (p.Asn1706fs)
NM_001165963.4(SCN1A):c.5161A>C (p.Thr1721Pro)
NM_001165963.4(SCN1A):c.5215C>T (p.Pro1739Ser)	rs1689271992
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn)	rs796053035
NM_001165963.4(SCN1A):c.5221T>A (p.Cys1741Ser)
NM_001165963.4(SCN1A):c.5316del (p.Ser1773fs)
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)	rs780809852
NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp)	rs760906812
NM_001165963.4(SCN1A):c.5624_5630del (p.Val1875fs)	rs2105425236

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