ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 11
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HGVS dbSNP
NM_006920.6(SCN1A):c.3132C>T (p.Asn1044=) rs797045939
NM_006920.6(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006920.6(SCN1A):c.3672+10del rs570862962
NM_006920.6(SCN1A):c.3866C>T (p.Thr1289Ile) rs146878122
NM_006920.6(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.6(SCN1A):c.4690C>T (p.Arg1564Cys) rs121918807
NM_006920.6(SCN1A):c.4854C>T (p.Phe1618=) rs587780445
NM_006920.6(SCN1A):c.5048A>G (p.Tyr1683Cys) rs121918777
NM_006920.6(SCN1A):c.5303A>G (p.Asn1768Ser) rs797045940
NM_006920.6(SCN1A):c.5313C>T (p.Ile1771=) rs121918763
NM_006920.6(SCN1A):c.5599G>C (p.Glu1867Gln) rs148703212

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