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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter)	rs1556408009
NM_001167.4(XIAP):c.1458del (p.Val487fs)	rs1602562990
NM_001167.4(XIAP):c.609dup (p.Gly204fs)	rs1602544507
NM_002351.5(SH2D1A):c.160T>A (p.Tyr54Asn)	rs2147531326
NM_002351.5(SH2D1A):c.202-1G>C	rs2147534019

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