List of variants in gene combination LOC102724058, SCN1A reported as pathogenic by Institute of Human Genetics, University of Leipzig Medical Center

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)	rs794726710
NM_001165963.4(SCN1A):c.3705+1G>A	rs794726744
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)	rs794726770
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)	rs796053004
NM_001165963.4(SCN1A):c.4002+1G>T	rs1692153643
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)	rs121917986
NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg)	rs121918789
NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr)	rs2105486716
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)	rs121917993
NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter)
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs)	rs794726754
NM_001165963.4(SCN1A):c.5343del (p.Met1780_Tyr1781insTer)	rs1689241423
NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)	rs1559101839
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)	rs794726726

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