ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_123480147)_(123480649_?)del
NC_000023.10:g.(?_123480493)_(123505241_?)del
NC_000023.10:g.(?_123494030)_(123499653_?)del
NC_000023.10:g.(?_123499591)_(123499694_?)del
NC_000023.11:g.(?_124346297)_(124371411_?)del
NC_000023.11:g.(?_124346562)_(124346780_124365760)del
NM_002351.5(SH2D1A):c.-10C>T rs1603236465
NM_002351.5(SH2D1A):c.126C>A (p.Cys42Ter)
NM_002351.5(SH2D1A):c.137+5G>C rs587777612
NM_002351.5(SH2D1A):c.138-1G>A
NM_002351.5(SH2D1A):c.138-1G>T rs1603238847
NM_002351.5(SH2D1A):c.149_201+106del
NM_002351.5(SH2D1A):c.160T>A (p.Tyr54Asn) rs2147531326
NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter) rs111033623
NM_002351.5(SH2D1A):c.164G>T (p.Arg55Leu) rs111033630
NM_002351.5(SH2D1A):c.172C>T (p.Gln58Ter) rs111033628
NM_002351.5(SH2D1A):c.191G>A (p.Trp64Ter) rs746035909
NM_002351.5(SH2D1A):c.192G>A (p.Trp64Ter) rs1556620706
NM_002351.5(SH2D1A):c.1A>G (p.Met1Val)
NM_002351.5(SH2D1A):c.201+1G>A
NM_002351.5(SH2D1A):c.202-1G>C rs2147534019
NM_002351.5(SH2D1A):c.203C>T (p.Thr68Ile) rs111033627
NM_002351.5(SH2D1A):c.20A>G (p.Tyr7Cys) rs1569527111
NM_002351.5(SH2D1A):c.23A>C (p.His8Pro)
NM_002351.5(SH2D1A):c.245dup (p.Asn82fs) rs2147534047
NM_002351.5(SH2D1A):c.251T>C (p.Ile84Thr)
NM_002351.5(SH2D1A):c.261dup (p.Gln88fs)
NM_002351.5(SH2D1A):c.295C>T (p.Gln99Ter)
NM_002351.5(SH2D1A):c.2T>C (p.Met1Thr) rs2147519353
NM_002351.5(SH2D1A):c.302C>T (p.Pro101Leu) rs111033626
NM_002351.5(SH2D1A):c.385T>A (p.Ter129Arg) rs111033625
NM_002351.5(SH2D1A):c.3G>T (p.Met1Ile) rs111033629
NM_002351.5(SH2D1A):c.95G>C (p.Arg32Thr) rs111033624

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