List of variants in gene combination LOC102724058, SCN1A reported as pathogenic for developmental and epileptic encephalopathy 6B

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)	rs727504136
NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser)	rs1574006857
NM_001165963.4(SCN1A):c.4044G>C (p.Met1348Ile)	rs794726822
NM_001165963.4(SCN1A):c.4879_4883del (p.Lys1627fs)
NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)	rs199727342
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr)	rs121917980
NM_001165963.4(SCN1A):c.5476G>T (p.Glu1826Ter)	rs1553520107
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)	rs794726726
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter)	rs794726739

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