List of variants in gene combination LOC102724058, SCN1A reported as likely 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val)	rs915676341	0.00001
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)	rs794726770
NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr)	rs1553531134
NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs)	rs2105571418
NM_001165963.4(SCN1A):c.3961_3962del (p.Leu1321fs)
NM_001165963.4(SCN1A):c.4284+4A>C	rs1691026372
NM_001165963.4(SCN1A):c.4581+18A>G	rs1689981394
NM_001165963.4(SCN1A):c.4630G>A (p.Asp1544Asn)
NM_001165963.4(SCN1A):c.4778T>A (p.Ile1593Asn)

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