List of variants in gene combination LOC102724058, SCN1A reported as pathogenic for cardiovascular disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu)	rs121918632	0.00001
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)	rs794726710
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)	rs727504136
NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys)	rs121918628
NM_001165963.4(SCN1A):c.4467G>C (p.Gln1489His)	rs121918633
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)	rs139300715
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs)	rs794726825
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)	rs794726752
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val)	rs121917975
NM_001165963.4(SCN1A):c.4772A>T (p.Lys1591Ile)	rs1689685377
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln)	rs121917995
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.5341T>C (p.Tyr1781His)	rs1689242255
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)	rs121917980
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)	rs794726739
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter)	rs77216276

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