List of variants in gene combination LOC102724058, SCN1A reported as likely pathogenic by Mendelics

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001165963.4(SCN1A):c.3429+1G>T	rs1574166948
NM_001165963.4(SCN1A):c.3705+5G>A	rs1060502189
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs)	rs1574005699
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)	rs1573991676
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu)	rs794729200
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)	rs1573953706
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)	rs121918778
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)	rs796053036

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