ClinVar Miner

List of variants studied for X-linked lymphoproliferative disease due to XIAP deficiency by OMIM

Included ClinVar conditions (2):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001167.4(XIAP):c.608G>A (p.Cys203Tyr) rs387907301 0.00001
NG_007264.1:g.(31343_33421)_(33522_36040)del
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.292del (p.Glu99fs) rs1556404534
NM_001167.4(XIAP):c.352G>T (p.Glu118Ter) rs104894764
NM_001167.4(XIAP):c.651del (p.Trp217fs) rs1556404673
NM_001167.4(XIAP):c.672dup (p.Pro225fs) rs1556404697

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