ClinVar Miner

List of variants studied for X-linked lymphoproliferative disease due to SH2D1A deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.124346297C>T rs12164382 0.43694
NM_002351.5(SH2D1A):c.346+3A>G rs199706936 0.00031
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.219T>A (p.His73Gln) rs954824608 0.00003
NM_002351.5(SH2D1A):c.53A>G (p.Lys18Arg) rs1303880423 0.00002
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
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.138-1G>A
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.152T>C (p.Ile51Thr)
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.183A>C (p.Thr61=) rs1569527577
NM_002351.5(SH2D1A):c.191G>A (p.Trp64Ter) rs746035909
NM_002351.5(SH2D1A):c.196G>C (p.Ala66Pro)
NM_002351.5(SH2D1A):c.197_201+9del rs2060052777
NM_002351.5(SH2D1A):c.201+12T>C
NM_002351.5(SH2D1A):c.201+1G>A
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.202-5del 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.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.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>G (p.Ter129Gly) rs111033625
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.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.96G>A (p.Arg32=)

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