ClinVar Miner

List of variants in gene combination LOC102724058, SCN1A reported as likely benign by Ambry Genetics

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Total variants: 20
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HGVS dbSNP
NM_006920.6(SCN1A):c.3119T>C (p.Leu1040Pro)
NM_006920.6(SCN1A):c.3133A>G (p.Asn1045Asp)
NM_006920.6(SCN1A):c.3488C>G (p.Thr1163Ser) rs121918799
NM_006920.6(SCN1A):c.3853T>C (p.Leu1285=) rs375896308
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.3915G>A (p.Arg1305=) rs149579028
NM_006920.6(SCN1A):c.4096A>G (p.Ile1366Val) rs762317674
NM_006920.6(SCN1A):c.4360A>G (p.Ile1454Val) rs138231868
NM_006920.6(SCN1A):c.4515G>A (p.Ser1505=) rs78041051
NM_006920.6(SCN1A):c.4518A>G (p.Lys1506=) rs374087499
NM_006920.6(SCN1A):c.4524G>A (p.Pro1508=) rs368785509
NM_006920.6(SCN1A):c.4684T>C (p.Leu1562=) rs1559110682
NM_006920.6(SCN1A):c.4698T>C (p.Asn1566=) rs145296488
NM_006920.6(SCN1A):c.4839G>A (p.Leu1613=) rs142910512
NM_006920.6(SCN1A):c.4890T>C (p.Ala1630=) rs369650500
NM_006920.6(SCN1A):c.4912C>T (p.Leu1638=) rs148546224
NM_006920.6(SCN1A):c.5244A>C (p.Pro1748=) rs1044871344
NM_006920.6(SCN1A):c.5253A>G (p.Gly1751=) rs150570058
NM_006920.6(SCN1A):c.5749C>G (p.Arg1917Gly) rs121917956

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