ClinVar Miner

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

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Total variants: 23
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HGVS dbSNP
NM_006920.6(SCN1A):c.3314C>A (p.Pro1105Gln) rs1553540184
NM_006920.6(SCN1A):c.3627del (p.Phe1209fs) rs1553532582
NM_006920.6(SCN1A):c.3665G>A (p.Gly1222Asp) rs1553532470
NM_006920.6(SCN1A):c.3846+5G>A rs796052999
NM_006920.6(SCN1A):c.3854T>C (p.Leu1285Ser) rs1553529633
NM_006920.6(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.6(SCN1A):c.3893T>G (p.Leu1298Arg) rs1553529527
NM_006920.6(SCN1A):c.4251+5G>A rs1064797264
NM_006920.6(SCN1A):c.4308G>A (p.Val1436=) rs1478635537
NM_006920.6(SCN1A):c.4356T>C (p.Phe1452=) rs794727375
NM_006920.6(SCN1A):c.4496C>T (p.Ala1499Val) rs796053019
NM_006920.6(SCN1A):c.4549-3C>T rs747649993
NM_006920.6(SCN1A):c.4826T>C (p.Phe1609Ser) rs1317010570
NM_006920.6(SCN1A):c.4873del (p.Arg1625fs) rs1553520483
NM_006920.6(SCN1A):c.5181A>T (p.Pro1727=) rs1553520290
NM_006920.6(SCN1A):c.5403G>C (p.Trp1801Cys) rs863225037
NM_006920.6(SCN1A):c.5580T>A (p.Phe1860Leu) rs1354992113
NM_006920.6(SCN1A):c.5582del (p.Thr1861fs) rs1553520001
NM_006920.6(SCN1A):c.5606G>A (p.Gly1869Glu) rs201905405
NM_006920.6(SCN1A):c.5637A>G (p.Glu1879=) rs1057519211
NM_006920.6(SCN1A):c.5749C>G (p.Arg1917Gly) rs121917956
NM_006920.6(SCN1A):c.5837A>G (p.Glu1946Gly) rs121918802
NM_006920.6(SCN1A):c.5844G>T (p.Met1948Ile) rs763997333

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