ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A studied for Epilepsy

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.*721A>G rs4667859 0.99675
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_001165963.4(SCN1A):c.*1739C>T rs1813502 0.70050
NM_001165963.4(SCN1A):c.*1025T>C rs10497275 0.13322
NM_001165963.4(SCN1A):c.*1961C>T rs7577411 0.08473
NM_001165963.4(SCN1A):c.*1693A>G rs7591522 0.03977
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_001165963.4(SCN1A):c.*172dup rs113696479 0.03631
NM_001165963.4(SCN1A):c.*1224G>A rs77088538 0.01643
NM_001165963.4(SCN1A):c.*1653C>T rs79971813 0.01291
NM_001165963.4(SCN1A):c.*1031A>T rs114522414 0.00876
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) rs140237315 0.00855
NM_001165963.4(SCN1A):c.*1952T>C rs184794128 0.00627
NM_001165963.4(SCN1A):c.*1864T>A rs150155252 0.00341
NM_001165963.4(SCN1A):c.*588A>G rs539073575 0.00258
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00047
NM_001165963.4(SCN1A):c.*1795G>A rs189183531 0.00021
NM_001165963.4(SCN1A):c.*129T>G rs886055040 0.00015
NM_001165963.4(SCN1A):c.*1989C>T rs371391758 0.00011
NM_001165963.4(SCN1A):c.*460A>C rs746164130 0.00011
NM_001165963.4(SCN1A):c.*1950G>A rs773354801 0.00003
NM_001165963.4(SCN1A):c.*1121T>C rs886055034 0.00001
NM_001165963.4(SCN1A):c.*1482G>A rs886055033 0.00001
NM_001165963.4(SCN1A):c.*259T>C rs886055039 0.00001
NM_001165963.4(SCN1A):c.*912T>A rs886055036 0.00001
NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=) rs750943685 0.00001
NM_001165963.4(SCN1A):c.4581+12C>T rs886055042 0.00001
NM_001165963.4(SCN1A):c.4941A>G (p.Leu1647=) rs770111331 0.00001
NM_001165963.4(SCN1A):c.*1872del rs878898132
NM_001165963.4(SCN1A):c.*672_*675del rs886055038
NM_001165963.4(SCN1A):c.*878dup rs886055037
NM_001165963.4(SCN1A):c.*977T>C rs886055035
NM_001165963.4(SCN1A):c.3513T>C (p.Pro1171=) rs886055044
NM_001165963.4(SCN1A):c.3880-10G>C rs886055043
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001165963.4(SCN1A):c.5992G>C (p.Glu1998Gln) rs886055041

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