ClinVar Miner

List of variants studied for Immunodeficiency 18 by Invitae

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Total variants: 15
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HGVS dbSNP
NM_000733.3(CD3E):c.103+1G>T
NM_000733.3(CD3E):c.103C>T (p.Pro35Ser) rs143949187
NM_000733.3(CD3E):c.216T>C (p.Asp72=) rs2231444
NM_000733.3(CD3E):c.298C>A (p.Pro100Thr)
NM_000733.3(CD3E):c.323C>T (p.Ala108Val) rs35299792
NM_000733.3(CD3E):c.353-5C>A rs374456909
NM_000733.3(CD3E):c.458A>C (p.Lys153Thr) rs200258299
NM_000733.3(CD3E):c.49+3G>A rs202200315
NM_000733.3(CD3E):c.498G>A (p.Ala166=) rs78373007
NM_000733.3(CD3E):c.499G>A (p.Gly167Ser)
NM_000733.3(CD3E):c.507C>T (p.Gly169=) rs2231447
NM_000733.3(CD3E):c.567+10G>T
NM_000733.3(CD3E):c.575G>A (p.Arg192Gln)
NM_000733.3(CD3E):c.580G>A (p.Gly194Ser) rs141553540
NM_000733.3(CD3E):c.617G>A (p.Arg206His)

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