ClinVar Miner

List of variants in gene SCN2A reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 25
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HGVS dbSNP
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423
NM_001040142.2(SCN2A):c.2016+10A>G rs886042771
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=) rs587781156
NM_001040142.2(SCN2A):c.2631T>C (p.Ser877=) rs1292645984
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001040142.2(SCN2A):c.3547C>G (p.Gln1183Glu) rs775814612
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924
NM_001040142.2(SCN2A):c.3788C>T (p.Ala1263Val) rs1559395534
NM_001040142.2(SCN2A):c.4156T>G (p.Cys1386Gly) rs794727364
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=) rs141153302
NM_001040142.2(SCN2A):c.4483A>G (p.Lys1495Glu) rs1553462214
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_001040142.2(SCN2A):c.5004C>T (p.Phe1668=) rs886044285
NM_001040142.2(SCN2A):c.5121G>A (p.Leu1707=) rs377063535
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=) rs1177406324
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=) rs6706924
NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=) rs767592553
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756
NM_001040142.2(SCN2A):c.5773G>A (p.Val1925Ile)
NM_001040142.2(SCN2A):c.5873C>A (p.Ser1958Ter) rs1558887309
NM_001040142.2(SCN2A):c.913_915ACT[3] (p.Thr306dup) rs1469280756

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