ClinVar Miner

List of variants in gene XIAP reported as pathogenic for X-linked lymphoproliferative syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
GRCh37/hg19 Xq25(chrX:122970459-123034511)
NC_000023.10:g.(?_123019487)_(123026643_?)del
NC_000023.10:g.(?_123025068)_(123026643_?)del
NM_001167.3(XIAP):c.1021_1022del (p.Asn341fs) rs1556406033
NM_001167.3(XIAP):c.1045_1047GAG[1] (p.Glu350del) rs199683465
NM_001167.3(XIAP):c.108del (p.Pro37fs) rs1556404455
NM_001167.3(XIAP):c.292del (p.Glu99fs) rs1556404534
NM_001167.3(XIAP):c.352G>T (p.Glu118Ter) rs104894764
NM_001167.3(XIAP):c.389_392del (p.Asp130fs) rs1556404575
NM_001167.3(XIAP):c.566T>C (p.Leu189Pro) rs1569477871
NM_001167.3(XIAP):c.608G>A (p.Cys203Tyr) rs387907301
NM_001167.3(XIAP):c.651del (p.Trp217fs) rs1556404673
NM_001167.3(XIAP):c.664C>T (p.Arg222Ter) rs1556404684
NM_001167.3(XIAP):c.672dup (p.Pro225fs) rs1556404697
NM_001167.3(XIAP):c.712C>T (p.Arg238Ter)
NM_001167.3(XIAP):c.955C>T (p.Gln319Ter)
XIAP, 2606-BP DEL

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