List of variants in gene CXCR4 reported as pathogenic for agranulocytosis

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter)	rs104893624
NM_003467.3(CXCR4):c.1006G>T (p.Gly336Ter)	rs2104915575
NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter)	rs104893626
NM_003467.3(CXCR4):c.1014del (p.Ser339fs)	rs2104915548
NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs)	rs730880320
NM_003467.3(CXCR4):c.1025_1026del (p.Thr342fs)	rs2104915518
NM_003467.3(CXCR4):c.1027G>T (p.Glu343Ter)	rs104893625
NM_003467.3(CXCR4):c.893_1034dup (p.Glu345_Ser346insProHisProLeuCysPheProTrpSerGlnIleTer)	rs2104915487
NM_003467.3(CXCR4):c.956_957del (p.Ser319fs)	rs1684841455
NM_003467.3(CXCR4):c.959_960del (p.Val320fs)	rs2104915680
NM_003467.3(CXCR4):c.963dup (p.Arg322fs)	rs2104915668
NM_003467.3(CXCR4):c.969dup (p.Ser324fs)	rs1684840786
NM_003467.3(CXCR4):c.994G>T (p.Gly332Ter)	rs1240625960

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