List of variants reported as pathogenic for WHIM syndrome by OMIM

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Show significances as they were submitted (without aggregation into standard terms)

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001557.4(CXCR2):c.865C>T (p.Arg289Cys)	rs200726461	0.00006
NM_001557.4(CXCR2):c.430C>T (p.Arg144Cys)	rs141722043	0.00003
NM_001557.4(CXCR2):c.550C>T (p.Arg184Ter)	rs200409575	0.00001
CXCR2, 13.4-KB DEL
CXCR2, 8-BP DEL, NT720
CXCR2, ARG144HIS
NM_001557.4(CXCR2):c.634C>T (p.Arg212Trp)
NM_001557.4(CXCR2):c.968del (p.His323fs)	rs2106109435
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter)	rs104893624
NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter)	rs104893626
NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs)	rs730880320
NM_003467.3(CXCR4):c.1027G>T (p.Glu343Ter)	rs104893625
NM_003467.3(CXCR4):c.969dup (p.Ser324fs)	rs1684840786

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