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: 21
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HGVS dbSNP
NC_000023.11:g.(?_123885637)_(123892793_?)del
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.108delT (p.Pro37Glnfs) rs1556404455
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.389_392delACAG (p.Asp130Glyfs) 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.664C>T (p.Arg222Ter) rs1556404684
NM_001167.3(XIAP):c.683T>G (p.Phe228Cys)
NM_001167.3(XIAP):c.688G>A (p.Val230Ile) rs144884904
NM_001167.3(XIAP):c.712C>T (p.Arg238Ter)
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_002351.4(SH2D1A):c.116G>T (p.Gly39Val) rs1556619338
NM_002351.4(SH2D1A):c.163C>T (p.Arg55Ter) rs111033623
NM_002351.4(SH2D1A):c.48C>A (p.Gly16=) rs72610640

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