ClinVar Miner

List of variants in gene SH2D1A reported as pathogenic for X-linked lymphoproliferative syndrome

Included ClinVar conditions (4):
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Gene type:
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Total variants: 18
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HGVS dbSNP
NC_000023.10:g.(?_123480147)_(123505261_?)del
NC_000023.10:g.(?_123499591)_(123505261_?)del
NM_002351.4(SH2D1A):c.137+5G>C rs587777612
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.192G>A (p.Trp64Ter) rs1556620706
NM_002351.4(SH2D1A):c.203C>T (p.Thr68Ile) rs111033627
NM_002351.4(SH2D1A):c.20A>G (p.Tyr7Cys) rs1569527111
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, -10C-T
SH2D1A, 159-BP DEL
SH2D1A, 163C-T
SH2D1A, EX1DEL
SH2D1A, IVS2AS, G-T, -1

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