ClinVar Miner

List of variants reported as likely pathogenic for X-linked lymphoproliferative syndrome by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.(?_123888599)_(123888738_?)dup
NM_001167.4(XIAP):c.1099+2T>C rs2148097889
NM_001167.4(XIAP):c.1317_1318delinsAT (p.Gln440Ter) rs2148112156
NM_002351.5(SH2D1A):c.197_201+9del rs2060052777
NM_002351.5(SH2D1A):c.201+2T>C rs2147531379

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