List of variants reported as pathogenic for lymphoid system disorder by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005199.5(CHRNG):c.753_754del (p.Val253fs)	rs767503038	0.00026
NM_000271.5(NPC1):c.2801G>A (p.Arg934Gln)	rs786204714	0.00001
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)	rs143124972	0.00001
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)	rs397507509
NM_005199.5(CHRNG):c.1143G>A (p.Trp381Ter)	rs1055176338
NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter)	rs1574643342
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)

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