ClinVar Miner

List of variants studied for X-linked lymphoproliferative syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP
NC_000023.11:g.(?_123885637)_(123886559_?)dup
NC_000023.11:g.(?_123885637)_(123888738_?)del
NC_000023.11:g.(?_123885637)_(123892793_?)del
NC_000023.11:g.(?_123885637)_(123907201_?)del
NC_000023.11:g.(?_123885637)_(123907201_?)dup
NC_000023.11:g.(?_123888599)_(123888738_?)dup
NC_000023.11:g.(?_123891218)_(123892793_?)del
NC_000023.11:g.(?_124346297)_(124371411_?)del
NC_000023.11:g.(?_124365741)_(124371411_?)del
NM_001167.3(XIAP):c.108del (p.Pro37fs) rs1556404455
NM_001167.3(XIAP):c.115G>T (p.Gly39Cys) rs775237858
NM_001167.3(XIAP):c.1408A>T (p.Thr470Ser) rs143165174
NM_001167.3(XIAP):c.171A>G (p.Glu57=) rs1556404487
NM_001167.3(XIAP):c.276T>C (p.Phe92=) rs45575532
NM_001167.3(XIAP):c.309G>A (p.Thr103=) rs140230812
NM_001167.3(XIAP):c.389_392del (p.Asp130fs) rs1556404575
NM_001167.3(XIAP):c.435G>T (p.Gln145His) rs759909620
NM_001167.3(XIAP):c.455C>G (p.Thr152Ser) rs150317928
NM_001167.3(XIAP):c.562G>A (p.Gly188Arg) rs1602544454
NM_001167.3(XIAP):c.664C>T (p.Arg222Ter) rs1556404684
NM_001167.3(XIAP):c.683T>G (p.Phe228Cys) rs140973844
NM_001167.3(XIAP):c.688G>A (p.Val230Ile) rs144884904
NM_001167.3(XIAP):c.712C>T (p.Arg238Ter) rs111978474
NM_001167.3(XIAP):c.73G>C (p.Glu25Gln) rs781204574
NM_001167.3(XIAP):c.769C>G (p.Pro257Ala) rs138783302
NM_001167.3(XIAP):c.844G>A (p.Glu282Lys) rs777303823
NM_001167.3(XIAP):c.878-5C>T rs367801081
NM_001167.3(XIAP):c.955C>T (p.Gln319Ter) rs1602546782
NM_001167.3(XIAP):c.978-10_978-4del rs1602549230
NM_001167.3(XIAP):c.978-9A>G rs1602549234
NM_001167.3(XIAP):c.978G>A (p.Gly326=) rs376282989
NM_001167.4(XIAP):c.1020C>G (p.Asn340Lys)
NM_001167.4(XIAP):c.1045_1047GAG[1] (p.Glu350del) rs199683465
NM_001167.4(XIAP):c.1048G>A (p.Glu350Lys)
NM_001167.4(XIAP):c.1058T>C (p.Val353Ala)
NM_001167.4(XIAP):c.1108A>G (p.Ile370Val)
NM_001167.4(XIAP):c.1154G>A (p.Ser385Asn)
NM_001167.4(XIAP):c.1179G>A (p.Met393Ile)
NM_001167.4(XIAP):c.1327C>T (p.Arg443Cys)
NM_001167.4(XIAP):c.210_213AGAT[3] (p.Trp73Ter)
NM_001167.4(XIAP):c.225_226insA (p.Gly76fs)
NM_001167.4(XIAP):c.227G>C (p.Gly76Ala)
NM_001167.4(XIAP):c.271A>G (p.Arg91Gly)
NM_001167.4(XIAP):c.272G>A (p.Arg91Lys)
NM_001167.4(XIAP):c.416A>G (p.Tyr139Cys)
NM_001167.4(XIAP):c.421_422del (p.Leu141fs)
NM_001167.4(XIAP):c.446dup (p.Ser150fs)
NM_001167.4(XIAP):c.482A>G (p.Tyr161Cys)
NM_001167.4(XIAP):c.632A>G (p.Glu211Gly)
NM_001167.4(XIAP):c.838A>C (p.Asn280His)
NM_001167.4(XIAP):c.840C>G (p.Asn280Lys)
NM_001167.4(XIAP):c.844G>C (p.Glu282Gln)
NM_001167.4(XIAP):c.919C>A (p.Leu307Ile)
NM_001167.4(XIAP):c.977+3A>G
NM_002351.4(SH2D1A):c.116G>T (p.Gly39Val) rs1556619338
NM_002351.4(SH2D1A):c.163C>T (p.Arg55Ter) rs111033623
NM_002351.4(SH2D1A):c.346+3A>G rs199706936
NM_002351.4(SH2D1A):c.48C>A (p.Gly16=) rs72610640
NM_002351.4(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002351.5(SH2D1A):c.118G>A (p.Val40Met)
NM_002351.5(SH2D1A):c.129A>G (p.Leu43=)
NM_002351.5(SH2D1A):c.131G>A (p.Cys44Tyr)
NM_002351.5(SH2D1A):c.197_201+9del
NM_002351.5(SH2D1A):c.202-5del rs767110636
NM_002351.5(SH2D1A):c.219T>A (p.His73Gln)
NM_002351.5(SH2D1A):c.346+6A>T
NM_002351.5(SH2D1A):c.362C>T (p.Pro121Leu)
NM_002351.5(SH2D1A):c.371G>C (p.Cys124Ser)
NM_002351.5(SH2D1A):c.82_102dup (p.Ser28_Ser34dup)

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