ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as likely pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 6
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HGVS dbSNP
NM_006920.6(SCN1A):c.3627del (p.Phe1209fs) rs1553532582
NM_006920.6(SCN1A):c.3665G>A (p.Gly1222Asp) rs1553532470
NM_006920.6(SCN1A):c.3893T>G (p.Leu1298Arg) rs1553529527
NM_006920.6(SCN1A):c.4826T>C (p.Phe1609Ser) rs1317010570
NM_006920.6(SCN1A):c.4873del (p.Arg1625fs) rs1553520483
NM_006920.6(SCN1A):c.5582del (p.Thr1861fs) rs1553520001

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