ClinVar Miner

List of variants in gene SH2D1A reported as uncertain significance for X-linked lymphoproliferative disease due to SH2D1A deficiency

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Total variants: 38
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HGVS dbSNP gnomAD frequency
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.*1755G>A rs1049817964 0.00051
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.118G>A (p.Val40Met) rs199639961 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.219T>A (p.His73Gln) rs954824608 0.00003
NM_002351.5(SH2D1A):c.53A>G (p.Lys18Arg) rs1303880423 0.00002
NM_002351.5(SH2D1A):c.*26A>T rs1240769541 0.00001
NM_002351.5(SH2D1A):c.102C>T (p.Ser34=) rs1484311033 0.00001
NM_002351.5(SH2D1A):c.201+4T>G rs201574927 0.00001
NM_002351.5(SH2D1A):c.338G>T (p.Gly113Val) rs757900199 0.00001
NC_000023.10:g.(?_123480147)_(123505241_?)dup
NM_002351.5(SH2D1A):c.*1753A>G rs867794698
NM_002351.5(SH2D1A):c.*759G>C rs1057515763
NM_002351.5(SH2D1A):c.102C>A (p.Ser34Arg)
NM_002351.5(SH2D1A):c.116G>T (p.Gly39Val) rs1556619338
NM_002351.5(SH2D1A):c.121T>A (p.Tyr41Asn)
NM_002351.5(SH2D1A):c.131G>A (p.Cys44Tyr) rs2059993925
NM_002351.5(SH2D1A):c.140A>G (p.Tyr47Cys)
NM_002351.5(SH2D1A):c.146G>T (p.Gly49Val) rs2147531318
NM_002351.5(SH2D1A):c.152T>C (p.Ile51Thr)
NM_002351.5(SH2D1A):c.158C>T (p.Thr53Ile)
NM_002351.5(SH2D1A):c.164G>A (p.Arg55Gln) rs111033630
NM_002351.5(SH2D1A):c.196G>C (p.Ala66Pro)
NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile) rs111033627
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)
NM_002351.5(SH2D1A):c.273T>G (p.Asp91Glu) rs775759946
NM_002351.5(SH2D1A):c.351A>G (p.Ile117Met) rs2147534671
NM_002351.5(SH2D1A):c.362C>T (p.Pro121Leu) rs2060068693
NM_002351.5(SH2D1A):c.371G>C (p.Cys124Ser) rs2060068721
NM_002351.5(SH2D1A):c.385T>G (p.Ter129Gly) rs111033625
NM_002351.5(SH2D1A):c.82_102dup (p.Ser28_Ser34dup) rs2059993641

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