ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A studied for Inborn genetic diseases

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Total variants: 8
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HGVS dbSNP
NM_006920.6(SCN1A):c.3259del (p.Asp1087fs) rs1553540213
NM_006920.6(SCN1A):c.3497C>G (p.Pro1166Arg) rs752060724
NM_006920.6(SCN1A):c.3582G>A (p.Trp1194Ter) rs794726720
NM_006920.6(SCN1A):c.3952C>T (p.Arg1318Ter) rs796053004
NM_006920.6(SCN1A):c.3980A>C (p.Asn1327Thr) rs797044952
NM_006920.6(SCN1A):c.4488C>G (p.Tyr1496Ter) rs750997506
NM_006920.6(SCN1A):c.4874G>A (p.Arg1625Gln) rs121917995
NM_006920.6(SCN1A):c.5273A>G (p.Tyr1758Cys) rs886039460

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