ClinVar Miner

List of variants in gene XIAP reported as pathogenic for X-linked lymphoproliferative disease due to XIAP deficiency

Included ClinVar conditions (2):
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001167.4(XIAP):c.1048G>T (p.Glu350Ter) rs773573633 0.00001
NM_001167.4(XIAP):c.608G>A (p.Cys203Tyr) rs387907301 0.00001
GRCh37/hg19 Xq25(chrX:122970459-123034511)
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.(?_123891218)_(123892793_?)del
NG_007264.1:g.(31343_33421)_(33522_36040)del
NM_001167.4(XIAP):c.1009G>T (p.Glu337Ter)
NM_001167.4(XIAP):c.1012dup (p.Tyr338fs) rs2148096182
NM_001167.4(XIAP):c.1021_1022del (p.Asn341fs) rs1556406033
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del) rs199683465
NM_001167.4(XIAP):c.108del (p.Pro37fs) rs1556404455
NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter) rs1556408009
NM_001167.4(XIAP):c.1315G>T (p.Glu439Ter) rs2148112149
NM_001167.4(XIAP):c.1458del (p.Val487fs) rs1602562990
NM_001167.4(XIAP):c.145C>T (p.Arg49Ter)
NM_001167.4(XIAP):c.214_217dup (p.Trp73Ter) rs2053346219
NM_001167.4(XIAP):c.225_226insA (p.Gly76fs) rs2053346343
NM_001167.4(XIAP):c.292del (p.Glu99fs) rs1556404534
NM_001167.4(XIAP):c.352G>T (p.Glu118Ter) rs104894764
NM_001167.4(XIAP):c.371del (p.Arg124fs)
NM_001167.4(XIAP):c.389_392del (p.Asp130fs) rs1556404575
NM_001167.4(XIAP):c.421_422del (p.Leu141fs) rs2053348573
NM_001167.4(XIAP):c.446dup (p.Ser150fs) rs2053348979
NM_001167.4(XIAP):c.481del (p.Tyr161fs)
NM_001167.4(XIAP):c.566T>C (p.Leu189Pro) rs1569477871
NM_001167.4(XIAP):c.595C>T (p.Gln199Ter) rs2053350325
NM_001167.4(XIAP):c.609TGG[1] (p.Gly205del) rs2148089962
NM_001167.4(XIAP):c.609dup (p.Gly204fs) rs1602544507
NM_001167.4(XIAP):c.60del (p.Glu21fs) rs2148089318
NM_001167.4(XIAP):c.651del (p.Trp217fs) rs1556404673
NM_001167.4(XIAP):c.664C>T (p.Arg222Ter) rs1556404684
NM_001167.4(XIAP):c.664_665insTGTC (p.Arg222fs)
NM_001167.4(XIAP):c.672dup (p.Pro225fs) rs1556404697
NM_001167.4(XIAP):c.712C>T (p.Arg238Ter) rs111978474
NM_001167.4(XIAP):c.755dup (p.Asn252fs) rs2148090158
NM_001167.4(XIAP):c.894_898del (p.Lys299fs) rs2148092759
NM_001167.4(XIAP):c.921_924del (p.Thr308fs) rs2148092792
NM_001167.4(XIAP):c.955C>T (p.Gln319Ter) rs1602546782
NM_001167.4(XIAP):c.978-2A>G rs2148096152
NM_001167.4(XIAP):c.990_991del (p.Leu331fs)

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