List of variants reported as uncertain significance for X-linked lymphoproliferative disease due to SH2D1A deficiency by Illumina Laboratory Services, Illumina

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_002351.5(SH2D1A):c.*1755G>A	rs1049817964	0.00163
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.*1601T>C	rs369322350	0.00036
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.*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

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