ClinVar Miner

List of variants studied for X-linked lymphoproliferative disease due to SH2D1A deficiency by Illumina Laboratory Services, Illumina

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_002351.5(SH2D1A):c.*863T>A rs7876065 0.84013
NC_000023.11:g.124346297C>T rs12164382 0.43694
NM_002351.5(SH2D1A):c.*1321A>G rs6649207 0.16862
NM_002351.5(SH2D1A):c.*212G>A rs5958475 0.06359
NM_002351.5(SH2D1A):c.*866A>G rs767771720 0.02353
NM_002351.5(SH2D1A):c.*1100C>A rs141513491 0.00923
NM_002351.4(SH2D1A):c.-318G>C rs146024883 0.00649
NM_002351.4(SH2D1A):c.-247G>A rs190166840 0.00231
NM_002351.5(SH2D1A):c.*862T>A rs774701387 0.00127
NM_002351.4(SH2D1A):c.-124T>A rs148700291 0.00092
NM_002351.5(SH2D1A):c.-74T>A rs142160401 0.00059
NM_002351.5(SH2D1A):c.*1755G>A rs1049817964 0.00051
NM_002351.5(SH2D1A):c.*1601T>C rs369322350 0.00036
NM_002351.5(SH2D1A):c.*1689C>A rs186082107 0.00031
NM_002351.5(SH2D1A):c.346+3A>G rs199706936 0.00031
NM_002351.5(SH2D1A):c.*511A>G rs921205093 0.00009
NM_002351.5(SH2D1A):c.*110T>C rs746586521 0.00008
NM_002351.5(SH2D1A):c.*1077G>A rs778956197 0.00005
NM_002351.5(SH2D1A):c.*1192A>G rs1355524556 0.00005
NM_002351.5(SH2D1A):c.*647G>A rs770056649 0.00005
NM_002351.5(SH2D1A):c.*257A>T rs556331824 0.00003
NM_002351.5(SH2D1A):c.*860T>C rs1057515764 0.00003
NM_002351.5(SH2D1A):c.*26A>T rs1240769541 0.00001
NM_002351.5(SH2D1A):c.*1753A>G rs867794698
NM_002351.5(SH2D1A):c.*759G>C rs1057515763
NM_002351.5(SH2D1A):c.371G>C (p.Cys124Ser) rs2060068721
NM_002351.5(SH2D1A):c.48C>A (p.Gly16=) rs72610640
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640

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