ClinVar Miner

List of variants in gene SH2D1A studied for X-linked lymphoproliferative disease due to SH2D1A deficiency

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Total variants: 120
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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.118G>A (p.Val40Met) rs199639961 0.00009
NM_002351.5(SH2D1A):c.138-19G>A rs370365609 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.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.129A>G (p.Leu43=) rs1569527113 0.00001
NM_002351.5(SH2D1A):c.144C>T (p.His48=) rs765804146 0.00001
NM_002351.5(SH2D1A):c.201+4T>G rs201574927 0.00001
NM_002351.5(SH2D1A):c.273T>C (p.Asp91=) rs775759946 0.00001
NM_002351.5(SH2D1A):c.338G>T (p.Gly113Val) rs757900199 0.00001
NM_002351.5(SH2D1A):c.346+6A>T rs746265444 0.00001
NM_002351.5(SH2D1A):c.373C>T (p.Leu125=) rs1230442586 0.00001
NM_002351.5(SH2D1A):c.7G>T (p.Ala3Ser) rs148554414 0.00001
NC_000023.10:g.(?_123480147)_(123480649_?)del
NC_000023.10:g.(?_123480147)_(123505241_?)dup
NC_000023.10:g.(?_123480493)_(123505241_?)del
NC_000023.10:g.(?_123494030)_(123499653_?)del
NC_000023.10:g.(?_123497345)_(123505232_?)del
NC_000023.10:g.(?_123499591)_(123499694_?)del
NC_000023.10:g.(?_123499591)_(123505241_?)del
NC_000023.10:g.(?_123499639)_(123506985_?)del
NC_000023.10:g.(?_123504006)_(123505241_?)del
NC_000023.11:g.(?_124346297)_(124371411_?)del
NC_000023.11:g.(?_124346562)_(124346780_124365760)del
NC_000023.11:g.[124350560_124365777del;124365777_124365917inv;124365911_124365916del]
NM_002351.5(SH2D1A):c.*1753A>G rs867794698
NM_002351.5(SH2D1A):c.*759G>C rs1057515763
NM_002351.5(SH2D1A):c.-10C>T rs1603236465
NM_002351.5(SH2D1A):c.102C>A (p.Ser34Arg)
NM_002351.5(SH2D1A):c.116G>T (p.Gly39Val) rs1556619338
NM_002351.5(SH2D1A):c.120G>A (p.Val40=)
NM_002351.5(SH2D1A):c.121T>A (p.Tyr41Asn)
NM_002351.5(SH2D1A):c.126C>A (p.Cys42Ter)
NM_002351.5(SH2D1A):c.131G>A (p.Cys44Tyr) rs2059993925
NM_002351.5(SH2D1A):c.137+5G>C rs587777612
NM_002351.5(SH2D1A):c.138-1G>A
NM_002351.5(SH2D1A):c.138-1G>T rs1603238847
NM_002351.5(SH2D1A):c.138-3C>G rs1556620697
NM_002351.5(SH2D1A):c.138-7T>C
NM_002351.5(SH2D1A):c.140A>G (p.Tyr47Cys)
NM_002351.5(SH2D1A):c.146G>T (p.Gly49Val) rs2147531318
NM_002351.5(SH2D1A):c.149_201+106del
NM_002351.5(SH2D1A):c.152T>C (p.Ile51Thr)
NM_002351.5(SH2D1A):c.158C>T (p.Thr53Ile)
NM_002351.5(SH2D1A):c.160T>A (p.Tyr54Asn) rs2147531326
NM_002351.5(SH2D1A):c.162C>A (p.Tyr54Ter)
NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter) rs111033623
NM_002351.5(SH2D1A):c.164G>A (p.Arg55Gln) rs111033630
NM_002351.5(SH2D1A):c.164G>T (p.Arg55Leu) rs111033630
NM_002351.5(SH2D1A):c.172C>T (p.Gln58Ter) rs111033628
NM_002351.5(SH2D1A):c.183A>C (p.Thr61=) rs1569527577
NM_002351.5(SH2D1A):c.191G>A (p.Trp64Ter) rs746035909
NM_002351.5(SH2D1A):c.192G>A (p.Trp64Ter) rs1556620706
NM_002351.5(SH2D1A):c.196G>C (p.Ala66Pro)
NM_002351.5(SH2D1A):c.197_201+9del rs2060052777
NM_002351.5(SH2D1A):c.1A>G (p.Met1Val)
NM_002351.5(SH2D1A):c.201+12T>C
NM_002351.5(SH2D1A):c.201+1G>A
NM_002351.5(SH2D1A):c.201+1dup
NM_002351.5(SH2D1A):c.201+20del
NM_002351.5(SH2D1A):c.201+2T>C rs2147531379
NM_002351.5(SH2D1A):c.202-10T>C
NM_002351.5(SH2D1A):c.202-17G>A rs2147534006
NM_002351.5(SH2D1A):c.202-1G>C rs2147534019
NM_002351.5(SH2D1A):c.202-5del rs767110636
NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile) rs111033627
NM_002351.5(SH2D1A):c.219T>C (p.His73=)
NM_002351.5(SH2D1A):c.228T>C (p.Tyr76=) rs2147534039
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)
NM_002351.5(SH2D1A):c.245dup (p.Asn82fs) rs2147534047
NM_002351.5(SH2D1A):c.251T>C (p.Ile84Thr)
NM_002351.5(SH2D1A):c.261dup (p.Gln88fs)
NM_002351.5(SH2D1A):c.273T>G (p.Asp91Glu) rs775759946
NM_002351.5(SH2D1A):c.292C>T (p.Leu98=)
NM_002351.5(SH2D1A):c.295C>T (p.Gln99Ter)
NM_002351.5(SH2D1A):c.2T>C (p.Met1Thr) rs2147519353
NM_002351.5(SH2D1A):c.302C>T (p.Pro101Leu) rs111033626
NM_002351.5(SH2D1A):c.312G>A (p.Lys104=)
NM_002351.5(SH2D1A):c.330T>C (p.Ser110=) rs2060066337
NM_002351.5(SH2D1A):c.347-32_347-28del rs200198093
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.366T>C (p.Asp122=)
NM_002351.5(SH2D1A):c.371G>C (p.Cys124Ser) rs2060068721
NM_002351.5(SH2D1A):c.385T>A (p.Ter129Arg) rs111033625
NM_002351.5(SH2D1A):c.385T>C (p.Ter129Arg) rs111033625
NM_002351.5(SH2D1A):c.385T>G (p.Ter129Gly) rs111033625
NM_002351.5(SH2D1A):c.3G>T (p.Met1Ile) rs111033629
NM_002351.5(SH2D1A):c.45C>T (p.Thr15=)
NM_002351.5(SH2D1A):c.48C>A (p.Gly16=) rs72610640
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002351.5(SH2D1A):c.5A>G (p.Asp2Gly) rs1556619319
NM_002351.5(SH2D1A):c.82_102dup (p.Ser28_Ser34dup) rs2059993641
NM_002351.5(SH2D1A):c.84C>T (p.Ser28=)
NM_002351.5(SH2D1A):c.87T>C (p.Tyr29=)
NM_002351.5(SH2D1A):c.95G>C (p.Arg32Thr) rs111033624
NM_002351.5(SH2D1A):c.96G>A (p.Arg32=)

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