ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as uncertain significance for not specified

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Total variants: 26
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HGVS dbSNP
NM_006920.6(SCN1A):c.3132C>T (p.Asn1044=) rs797045939
NM_006920.6(SCN1A):c.3132_3134CAA[1] (p.Asn1045del) rs796053069
NM_006920.6(SCN1A):c.3187G>A (p.Asp1063Asn) rs751514645
NM_006920.6(SCN1A):c.3448G>A (p.Ala1150Thr) rs201079458
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.3892C>T (p.Leu1298Phe) rs121918801
NM_006920.6(SCN1A):c.3935C>T (p.Pro1312Leu) rs1057521746
NM_006920.6(SCN1A):c.3969+6A>G rs1553529408
NM_006920.6(SCN1A):c.4312C>T (p.Leu1438Phe) rs768638174
NM_006920.6(SCN1A):c.4508T>C (p.Leu1503Ser) rs121918764
NM_006920.6(SCN1A):c.4537C>A (p.Pro1513Thr) rs143088184
NM_006920.6(SCN1A):c.4691G>A (p.Arg1564His) rs368834365
NM_006920.6(SCN1A):c.4820-3dup rs1553520532
NM_006920.6(SCN1A):c.4822A>G (p.Met1608Val) rs373967247
NM_006920.6(SCN1A):c.4885C>T (p.Leu1629Phe) rs1553520463
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.5350G>A (p.Glu1784Lys) rs121918813
NM_006920.6(SCN1A):c.5480C>G (p.Pro1827Arg) rs1553520084
NM_006920.6(SCN1A):c.5535G>A (p.Met1845Ile) rs144691638
NM_006920.6(SCN1A):c.5599G>C (p.Glu1867Gln) rs148703212
NM_006920.6(SCN1A):c.5737_5757del (p.Arg1913_Leu1919del) rs796053088
NM_006920.6(SCN1A):c.5918C>A (p.Pro1973His) rs146733308

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