ClinVar Miner

List of variants reported as uncertain significance for Immunodeficiency 18 by Illumina Laboratory Services, Illumina

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000733.4(CD3E):c.*196C>G rs116370847 0.00330
NM_000733.4(CD3E):c.408G>A (p.Val136=) rs143868906 0.00059
NM_000733.4(CD3E):c.*522C>G rs200563411 0.00047
NM_000733.4(CD3E):c.49+3G>A rs202200315 0.00041
NM_000733.4(CD3E):c.580G>A (p.Gly194Ser) rs141553540 0.00011
NM_000733.3(CD3E):c.*639T>C rs1415688813 0.00009
NM_000733.4(CD3E):c.*311C>T rs202056225 0.00009
NM_000733.3(CD3E):c.-166G>A rs886047735 0.00008
NM_000733.4(CD3E):c.441G>A (p.Leu147=) rs528492194 0.00006
NM_000733.4(CD3E):c.*559G>C rs909859167 0.00004
NM_000733.4(CD3E):c.-73T>C rs867899567 0.00004
NM_000733.4(CD3E):c.*247C>T rs200610341 0.00003
NM_000733.4(CD3E):c.458A>C (p.Lys153Thr) rs200258299 0.00003
NM_000733.4(CD3E):c.73A>G (p.Asn25Asp) rs201867379 0.00003
NM_000733.4(CD3E):c.82A>C (p.Met28Leu) rs759815699 0.00002
NM_000733.4(CD3E):c.611A>G (p.Gln204Arg) rs1291390174 0.00001
NM_000733.4(CD3E):c.*383C>T rs200729830
NM_000733.4(CD3E):c.*441C>T rs886047736
NM_000733.4(CD3E):c.*535C>G rs200286219
NM_000733.4(CD3E):c.*557T>C rs1948165620
NM_000733.4(CD3E):c.*604G>T rs1263009661
NM_000733.4(CD3E):c.211G>C (p.Asp71His) rs148647954

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