ClinVar Miner

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

Included ClinVar conditions (4):
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Total variants: 22
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HGVS dbSNP
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.292del (p.Glu99fs) rs1556404534
NM_001167.3(XIAP):c.352G>T (p.Glu118Ter) rs104894764
NM_001167.3(XIAP):c.608G>A (p.Cys203Tyr) rs387907301
NM_001167.3(XIAP):c.651del (p.Trp217fs) rs1556404673
NM_001167.3(XIAP):c.672dup (p.Pro225fs) rs1556404697
NM_002351.4(SH2D1A):c.-10C>T
NM_002351.4(SH2D1A):c.137+5G>C rs587777612
NM_002351.4(SH2D1A):c.138-1G>T
NM_002351.4(SH2D1A):c.163C>T (p.Arg55Ter) rs111033623
NM_002351.4(SH2D1A):c.164G>T (p.Arg55Leu) rs111033630
NM_002351.4(SH2D1A):c.172C>T (p.Gln58Ter) rs111033628
NM_002351.4(SH2D1A):c.203C>T (p.Thr68Ile) rs111033627
NM_002351.4(SH2D1A):c.302C>T (p.Pro101Leu) rs111033626
NM_002351.4(SH2D1A):c.385T>A (p.Ter129Arg) rs111033625
NM_002351.4(SH2D1A):c.3G>T (p.Met1Ile) rs111033629
NM_002351.4(SH2D1A):c.95G>C (p.Arg32Thr) rs111033624
SH2D1A, 159-BP DEL
SH2D1A, 163C-T
SH2D1A, EX1DEL
XIAP, 2606-BP DEL

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