ClinVar Miner

List of variants reported as likely benign for WHIM syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_003467.3(CXCR4):c.708G>A (p.Lys236=) rs199713103 0.00036
NM_003467.3(CXCR4):c.153T>A (p.Thr51=) rs145879963 0.00021
NM_003467.3(CXCR4):c.294C>T (p.Ala98=) rs142289207 0.00021
NM_003467.3(CXCR4):c.861C>T (p.Thr287=) rs535778934 0.00016
NM_003467.3(CXCR4):c.676C>T (p.Leu226=) rs180746866 0.00011
NM_003467.3(CXCR4):c.1003G>A (p.Gly335Ser) rs147214773 0.00008
NM_003467.3(CXCR4):c.453G>A (p.Leu151=) rs1160274529 0.00008
NM_003467.3(CXCR4):c.704G>A (p.Arg235His) rs377287446 0.00006
NM_003467.3(CXCR4):c.219G>A (p.Thr73=) rs909200339 0.00005
NM_003467.3(CXCR4):c.444G>A (p.Arg148=) rs374115177 0.00005
NM_003467.3(CXCR4):c.795C>T (p.Ile265=) rs960174502 0.00005
NM_003467.3(CXCR4):c.87C>T (p.Phe29=) rs768296315 0.00005
NM_003467.3(CXCR4):c.843C>T (p.His281=) rs980319409 0.00004
NM_003467.3(CXCR4):c.420C>T (p.His140=) rs774159824 0.00003
NM_003467.3(CXCR4):c.528C>T (p.Asn176=) rs113338664 0.00003
NM_003467.3(CXCR4):c.957T>G (p.Ser319=) rs2467263278 0.00003
NM_003467.3(CXCR4):c.1008A>G (p.Gly336=) rs755102336 0.00002
NM_003467.3(CXCR4):c.188T>C (p.Met63Thr) rs773216142 0.00002
NM_003467.3(CXCR4):c.249C>T (p.Ala83=) rs1013459896 0.00002
NM_003467.3(CXCR4):c.267C>T (p.Ile89=) rs778631569 0.00002
NM_003467.3(CXCR4):c.270G>A (p.Thr90=) rs753770848 0.00002
NM_003467.3(CXCR4):c.1032T>C (p.Ser344=) rs758871604 0.00001
NM_003467.3(CXCR4):c.15+18C>T rs774545896 0.00001
NM_003467.3(CXCR4):c.16-24T>C rs776615103 0.00001
NM_003467.3(CXCR4):c.39C>G (p.Thr13=) rs375868851 0.00001
NM_003467.3(CXCR4):c.473T>C (p.Val158Ala) rs780780627 0.00001
NM_003467.3(CXCR4):c.477C>T (p.Gly159=) rs1259138331 0.00001
NM_003467.3(CXCR4):c.501G>A (p.Leu167=) rs765419581 0.00001
NM_003467.3(CXCR4):c.549A>G (p.Arg183=) rs1684855376 0.00001
NM_003467.3(CXCR4):c.552T>C (p.Tyr184=) rs770667555 0.00001
NM_003467.3(CXCR4):c.933C>G (p.Thr311=) rs1350792475 0.00001
NM_003467.3(CXCR4):c.1026T>C (p.Thr342=) rs2104915514
NM_003467.3(CXCR4):c.15+7C>T rs2104922411
NM_003467.3(CXCR4):c.15+9A>C rs2104922408
NM_003467.3(CXCR4):c.165C>A (p.Gly55=) rs1302147452
NM_003467.3(CXCR4):c.184G>A (p.Val62Ile) rs2467266454
NM_003467.3(CXCR4):c.19T>C (p.Tyr7His) rs560844176
NM_003467.3(CXCR4):c.228C>T (p.Tyr76=) rs1684866754
NM_003467.3(CXCR4):c.249C>G (p.Ala83=)
NM_003467.3(CXCR4):c.273T>C (p.Leu91=) rs1025484081
NM_003467.3(CXCR4):c.296T>A (p.Val99Glu)
NM_003467.3(CXCR4):c.307T>C (p.Tyr103His) rs765237875
NM_003467.3(CXCR4):c.30T>C (p.Asp10=) rs1245012855
NM_003467.3(CXCR4):c.342C>A (p.Val114=) rs2467265953
NM_003467.3(CXCR4):c.363C>T (p.Tyr121=) rs1042544321
NM_003467.3(CXCR4):c.39C>A (p.Thr13=)
NM_003467.3(CXCR4):c.39C>T (p.Thr13=) rs375868851
NM_003467.3(CXCR4):c.402C>A (p.Arg134=) rs2104917808
NM_003467.3(CXCR4):c.438G>A (p.Arg146=) rs2104917730
NM_003467.3(CXCR4):c.456T>C (p.Ala152=)
NM_003467.3(CXCR4):c.477C>A (p.Gly159=)
NM_003467.3(CXCR4):c.504T>A (p.Thr168=) rs2104917313
NM_003467.3(CXCR4):c.560A>G (p.Asp187Gly) rs2104916956
NM_003467.3(CXCR4):c.564C>T (p.Arg188=)
NM_003467.3(CXCR4):c.579C>T (p.Asp193=)
NM_003467.3(CXCR4):c.618T>C (p.Val206=)
NM_003467.3(CXCR4):c.624T>C (p.Leu208=) rs2104916486
NM_003467.3(CXCR4):c.660C>T (p.Cys220=) rs2104916277
NM_003467.3(CXCR4):c.666C>T (p.Ile222=)
NM_003467.3(CXCR4):c.747C>T (p.Phe249=) rs779760942
NM_003467.3(CXCR4):c.789C>T (p.Ser263=)
NM_003467.3(CXCR4):c.798C>T (p.Leu266=) rs781570700
NM_003467.3(CXCR4):c.7G>T (p.Gly3Trp) rs1684968738
NM_003467.3(CXCR4):c.862G>A (p.Glu288Lys) rs750087956
NM_003467.3(CXCR4):c.870A>G (p.Leu290=) rs1573613626
NM_003467.3(CXCR4):c.912C>T (p.Phe304=) rs776152740
NM_003467.3(CXCR4):c.984C>A (p.Ile328=) rs777888690

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