ClinVar Miner

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

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
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.3550+11G>T rs202142409 0.00194
NM_001165963.4(SCN1A):c.3705+12T>G rs147032678 0.00181
NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=) rs78041051 0.00175
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_001165963.4(SCN1A):c.3804T>C (p.Leu1268=) rs143980709 0.00159
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868 0.00121
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=) rs149579028 0.00073
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512 0.00048
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224 0.00047
NM_001165963.4(SCN1A):c.*20A>G rs565537621 0.00041
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058 0.00040
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001165963.4(SCN1A):c.3498G>A (p.Gln1166=) rs145410000 0.00011
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509 0.00008
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445 0.00008
NM_001165963.4(SCN1A):c.4317T>C (p.Tyr1439=) rs758014915 0.00007
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365 0.00006
NM_001165963.4(SCN1A):c.3330T>C (p.Ser1110=) rs587781145 0.00005
NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=) rs375896308 0.00002
NM_001165963.4(SCN1A):c.4386C>T (p.Tyr1462=) rs587781146 0.00001
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247 0.00001
NM_001165963.4(SCN1A):c.5346C>T (p.Ile1782=) rs121918763 0.00001
NM_001165963.4(SCN1A):c.5766T>C (p.Ile1922=) rs587781149 0.00001
NM_001165963.4(SCN1A):c.3705+10del rs570862962
NM_001165963.4(SCN1A):c.4506A>G (p.Glu1502=) rs587781147
NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) rs374087499
NM_001165963.4(SCN1A):c.5356C>T (p.Leu1786=) rs587781148

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