ClinVar Miner

List of variants reported as likely pathogenic for X-linked lymphoproliferative disease due to SH2D1A deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(?_123497345)_(123505232_?)del
NC_000023.10:g.(?_123499639)_(123506985_?)del
NM_002351.5(SH2D1A):c.197_201+9del	rs2060052777
NM_002351.5(SH2D1A):c.201+2T>C	rs2147531379

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