ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) rs796053004
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn) rs1553525325
NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro) rs794726821
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp) rs1691073965
NM_001165963.4(SCN1A):c.4837A>G (p.Ile1613Val)
NM_001165963.4(SCN1A):c.4867G>C (p.Glu1623Gln)
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) rs794726726
NM_001165963.4(SCN1A):c.5634G>C (p.Glu1878Asp) rs748090629
NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr) rs121917981

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