ClinVar Miner

List of variants reported as likely benign for Kostmann syndrome

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ClinVar version:
Total variants: 207
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HGVS dbSNP gnomAD frequency
NM_006118.4(HAX1):c.159T>C (p.Ser53=) rs13796 0.09423
NM_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00228
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup) rs781468690 0.00035
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala) rs755031266 0.00029
NM_006118.4(HAX1):c.557-6T>C rs776550825 0.00018
NM_006118.4(HAX1):c.514G>A (p.Val172Ile) rs141970914 0.00016
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu) rs146152769 0.00016
NM_006118.4(HAX1):c.54-18A>G rs375210100 0.00014
NM_006118.4(HAX1):c.505-14G>C rs200863707 0.00010
NM_006118.4(HAX1):c.505-4G>A rs186219647 0.00010
NM_006118.4(HAX1):c.*47A>G rs183456651 0.00009
NM_006118.4(HAX1):c.160C>G (p.Pro54Ala) rs139205111 0.00007
NM_006118.4(HAX1):c.444T>C (p.Asp148=) rs114295590 0.00003
NM_006118.4(HAX1):c.594G>A (p.Pro198=) rs752302439 0.00003
NM_006118.4(HAX1):c.225C>T (p.Phe75=) rs547500941 0.00002
NM_006118.4(HAX1):c.317-4G>T rs368305272 0.00002
NM_006118.4(HAX1):c.411G>A (p.Gln137=) rs766622654 0.00002
NM_006118.4(HAX1):c.423T>C (p.Phe141=) rs200778148 0.00002
NM_006118.4(HAX1):c.429G>T (p.Gly143=) rs764127512 0.00002
NM_006118.4(HAX1):c.505-20T>C rs765259799 0.00002
NM_006118.4(HAX1):c.556+13G>A rs771282580 0.00002
NM_006118.4(HAX1):c.729C>T (p.His243=) rs145975391 0.00002
NM_006118.4(HAX1):c.12T>C (p.Phe4=) rs1490644075 0.00001
NM_006118.4(HAX1):c.180A>G (p.Glu60=) rs950658160 0.00001
NM_006118.4(HAX1):c.228C>T (p.His76=) rs1684867511 0.00001
NM_006118.4(HAX1):c.270C>T (p.Ser90=) rs754177724 0.00001
NM_006118.4(HAX1):c.316+19G>A rs747989063 0.00001
NM_006118.4(HAX1):c.357A>G (p.Leu119=) rs762197407 0.00001
NM_006118.4(HAX1):c.36C>G (p.Gly12=) rs201477841 0.00001
NM_006118.4(HAX1):c.393G>A (p.Lys131=) rs763126649 0.00001
NM_006118.4(HAX1):c.459C>T (p.Ser153=) rs1306497969 0.00001
NM_006118.4(HAX1):c.465A>G (p.Gln155=) rs1684879648 0.00001
NM_006118.4(HAX1):c.504+7A>G rs1684881000 0.00001
NM_006118.4(HAX1):c.504+7dup rs1300694878 0.00001
NM_006118.4(HAX1):c.505-9C>T rs779604569 0.00001
NM_006118.4(HAX1):c.53+9A>C rs756747610 0.00001
NM_006118.4(HAX1):c.54-4T>A rs908920404 0.00001
NM_006118.4(HAX1):c.54-6T>C rs556100256 0.00001
NM_006118.4(HAX1):c.549G>A (p.Glu183=) rs535226830 0.00001
NM_006118.4(HAX1):c.557-19C>T rs1050683276 0.00001
NM_006118.4(HAX1):c.57C>T (p.His19=) rs941774283 0.00001
NM_006118.4(HAX1):c.636T>C (p.Ser212=) rs146312637 0.00001
NM_006118.4(HAX1):c.660T>C (p.Asp220=) rs746250096 0.00001
NM_006118.4(HAX1):c.664-10C>T rs369087332 0.00001
NM_006118.4(HAX1):c.755-6C>T rs749368917 0.00001
NM_006118.4(HAX1):c.795T>C (p.Phe265=) rs886038568 0.00001
NM_006118.4(HAX1):c.798C>T (p.Ser266=) rs762492730 0.00001
NM_006118.4(HAX1):c.822T>C (p.Arg274=) rs756399040 0.00001
NM_006118.4(HAX1):c.837G>A (p.Arg279=) rs780915317 0.00001
NM_006118.4(HAX1):c.105_107del (p.Glu40del) rs752101273
NM_006118.4(HAX1):c.107AAG[4] (p.Glu40del) rs753894148
NM_006118.4(HAX1):c.108A>G (p.Glu36=) rs11556342
NM_006118.4(HAX1):c.123G>C (p.Gly41=) rs1057521590
NM_006118.4(HAX1):c.129A>C (p.Ser43=)
NM_006118.4(HAX1):c.129A>G (p.Ser43=)
NM_006118.4(HAX1):c.129A>T (p.Ser43=)
NM_006118.4(HAX1):c.147A>G (p.Pro49=)
NM_006118.4(HAX1):c.162T>C (p.Pro54=) rs1684862702
NM_006118.4(HAX1):c.168C>T (p.His56=) rs756371972
NM_006118.4(HAX1):c.171C>A (p.Pro57=)
NM_006118.4(HAX1):c.171C>G (p.Pro57=)
NM_006118.4(HAX1):c.171C>T (p.Pro57=)
NM_006118.4(HAX1):c.174T>A (p.Pro58=) rs757349543
NM_006118.4(HAX1):c.189C>T (p.Phe63=)
NM_006118.4(HAX1):c.18C>G (p.Leu6=) rs375735851
NM_006118.4(HAX1):c.18C>T (p.Leu6=) rs375735851
NM_006118.4(HAX1):c.216G>C (p.Gly72=)
NM_006118.4(HAX1):c.21C>T (p.Phe7=) rs2149138533
NM_006118.4(HAX1):c.231T>C (p.Asp77=)
NM_006118.4(HAX1):c.246T>C (p.Asp82=) rs2149139825
NM_006118.4(HAX1):c.24G>A (p.Arg8=)
NM_006118.4(HAX1):c.276C>T (p.Phe92=) rs1394401898
NM_006118.4(HAX1):c.279C>T (p.Ser93=) rs1684868690
NM_006118.4(HAX1):c.27C>T (p.Gly9=)
NM_006118.4(HAX1):c.288G>A (p.Gly96=) rs750516773
NM_006118.4(HAX1):c.288G>C (p.Gly96=) rs750516773
NM_006118.4(HAX1):c.30T>C (p.Phe10=) rs2149138547
NM_006118.4(HAX1):c.316+10T>G rs2149139872
NM_006118.4(HAX1):c.316+12dup rs1278748171
NM_006118.4(HAX1):c.316+17A>G
NM_006118.4(HAX1):c.316+17_316+28del rs1484850337
NM_006118.4(HAX1):c.317-17C>G
NM_006118.4(HAX1):c.317-17C>T
NM_006118.4(HAX1):c.317-19A>C
NM_006118.4(HAX1):c.317-19A>G
NM_006118.4(HAX1):c.363G>A (p.Glu121=) rs2149139958
NM_006118.4(HAX1):c.381C>T (p.Asp127=)
NM_006118.4(HAX1):c.396T>C (p.Tyr132=) rs2149139988
NM_006118.4(HAX1):c.399A>G (p.Pro133=)
NM_006118.4(HAX1):c.414C>T (p.Pro138=) rs1572018842
NM_006118.4(HAX1):c.420C>A (p.Ile140=) rs2149139999
NM_006118.4(HAX1):c.426G>A (p.Gly142=) rs751652704
NM_006118.4(HAX1):c.426G>C (p.Gly142=) rs751652704
NM_006118.4(HAX1):c.42T>G (p.Pro14=)
NM_006118.4(HAX1):c.436G>A (p.Glu146Lys) rs114883767
NM_006118.4(HAX1):c.453T>C (p.Ser151=)
NM_006118.4(HAX1):c.456A>G (p.Glu152=) rs2149140027
NM_006118.4(HAX1):c.459C>A (p.Ser153=)
NM_006118.4(HAX1):c.462C>A (p.Pro154=) rs541692174
NM_006118.4(HAX1):c.462C>G (p.Pro154=) rs541692174
NM_006118.4(HAX1):c.471A>G (p.Ala157=) rs1572018909
NM_006118.4(HAX1):c.471A>T (p.Ala157=) rs1572018909
NM_006118.4(HAX1):c.486C>T (p.Ser162=) rs2149140052
NM_006118.4(HAX1):c.495A>G (p.Pro165=)
NM_006118.4(HAX1):c.501T>C (p.His167=) rs2149140060
NM_006118.4(HAX1):c.504+10C>A
NM_006118.4(HAX1):c.504+10C>T
NM_006118.4(HAX1):c.504+12A>C
NM_006118.4(HAX1):c.504+12A>G
NM_006118.4(HAX1):c.504+12A>T
NM_006118.4(HAX1):c.504+19C>T
NM_006118.4(HAX1):c.504+9C>G rs2149140073
NM_006118.4(HAX1):c.505-13G>T
NM_006118.4(HAX1):c.507T>C (p.Phe169=)
NM_006118.4(HAX1):c.513T>C (p.Asp171=)
NM_006118.4(HAX1):c.516A>G (p.Val172=) rs1684900369
NM_006118.4(HAX1):c.528C>T (p.Asp176=)
NM_006118.4(HAX1):c.53+13C>T rs759011018
NM_006118.4(HAX1):c.53+16G>A
NM_006118.4(HAX1):c.53+19C>T
NM_006118.4(HAX1):c.53+3GA[3]
NM_006118.4(HAX1):c.53+6_53+7insT
NM_006118.4(HAX1):c.53+7G>A rs2149138580
NM_006118.4(HAX1):c.531C>A (p.Pro177=)
NM_006118.4(HAX1):c.54-12C>T
NM_006118.4(HAX1):c.54-14G>A
NM_006118.4(HAX1):c.54-15T>G
NM_006118.4(HAX1):c.54-20C>G
NM_006118.4(HAX1):c.54-4T>G rs908920404
NM_006118.4(HAX1):c.54-5C>T rs1357333154
NM_006118.4(HAX1):c.54-8A>G rs2149139463
NM_006118.4(HAX1):c.543C>A (p.Thr181=)
NM_006118.4(HAX1):c.552C>T (p.Asp184=) rs2149140492
NM_006118.4(HAX1):c.556+11A>G
NM_006118.4(HAX1):c.556+15A>C
NM_006118.4(HAX1):c.556+15A>G
NM_006118.4(HAX1):c.556+17G>T rs2149140505
NM_006118.4(HAX1):c.556+9G>A
NM_006118.4(HAX1):c.557-11T>C
NM_006118.4(HAX1):c.557-12C>G rs1553289863
NM_006118.4(HAX1):c.557-16C>T
NM_006118.4(HAX1):c.557-18A>G
NM_006118.4(HAX1):c.557-5T>C
NM_006118.4(HAX1):c.557-7C>T
NM_006118.4(HAX1):c.557-8T>C rs1684904629
NM_006118.4(HAX1):c.557-9C>A rs1684904587
NM_006118.4(HAX1):c.567C>T (p.Ser189=) rs2149140587
NM_006118.4(HAX1):c.582G>A (p.Glu194=)
NM_006118.4(HAX1):c.594G>T (p.Pro198=)
NM_006118.4(HAX1):c.606C>G (p.Pro202=) rs1684905836
NM_006118.4(HAX1):c.606C>T (p.Pro202=)
NM_006118.4(HAX1):c.612C>A (p.Pro204=)
NM_006118.4(HAX1):c.612C>G (p.Pro204=) rs755648319
NM_006118.4(HAX1):c.645G>A (p.Lys215=) rs2149140634
NM_006118.4(HAX1):c.657A>T (p.Pro219=)
NM_006118.4(HAX1):c.663+14_663+17del rs2149140652
NM_006118.4(HAX1):c.663+20dup
NM_006118.4(HAX1):c.664-13C>T
NM_006118.4(HAX1):c.664-4G>A
NM_006118.4(HAX1):c.664-5T>G
NM_006118.4(HAX1):c.664-6T>C rs2149140688
NM_006118.4(HAX1):c.664-8C>G
NM_006118.4(HAX1):c.664-8C>T
NM_006118.4(HAX1):c.666A>T (p.Ile222=) rs2149140695
NM_006118.4(HAX1):c.678C>T (p.Arg226=) rs1684911540
NM_006118.4(HAX1):c.679C>A (p.Arg227=)
NM_006118.4(HAX1):c.684T>C (p.Thr228=)
NM_006118.4(HAX1):c.684T>G (p.Thr228=) rs2149140709
NM_006118.4(HAX1):c.690G>A (p.Val230=)
NM_006118.4(HAX1):c.699G>A (p.Glu233=) rs1398388092
NM_006118.4(HAX1):c.702C>A (p.Gly234=)
NM_006118.4(HAX1):c.702C>T (p.Gly234=) rs2149140719
NM_006118.4(HAX1):c.705G>A (p.Arg235=)
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile) rs377331781
NM_006118.4(HAX1):c.717A>G (p.Thr239=) rs911542597
NM_006118.4(HAX1):c.741C>T (p.Ser247=)
NM_006118.4(HAX1):c.744T>C (p.Ser248=)
NM_006118.4(HAX1):c.754+12G>A rs2149140759
NM_006118.4(HAX1):c.754+16A>G rs370265383
NM_006118.4(HAX1):c.754+16_754+17del
NM_006118.4(HAX1):c.754+17A>G rs2149140768
NM_006118.4(HAX1):c.754+18G>T
NM_006118.4(HAX1):c.754+19G>C
NM_006118.4(HAX1):c.754+8A>C rs766977977
NM_006118.4(HAX1):c.755-12T>A rs2149140818
NM_006118.4(HAX1):c.755-13C>T
NM_006118.4(HAX1):c.755-17A>G
NM_006118.4(HAX1):c.755-19G>A rs367977880
NM_006118.4(HAX1):c.755-19G>T
NM_006118.4(HAX1):c.755-5C>G
NM_006118.4(HAX1):c.755-5C>T rs2149140820
NM_006118.4(HAX1):c.768A>C (p.Pro256=) rs761421364
NM_006118.4(HAX1):c.768A>G (p.Pro256=) rs761421364
NM_006118.4(HAX1):c.780C>A (p.Ala260=) rs2149140833
NM_006118.4(HAX1):c.786T>C (p.Asp262=)
NM_006118.4(HAX1):c.78G>A (p.Gly26=)
NM_006118.4(HAX1):c.798C>A (p.Ser266=)
NM_006118.4(HAX1):c.802C>T (p.Leu268=) rs2149140852
NM_006118.4(HAX1):c.814C>T (p.Leu272=)
NM_006118.4(HAX1):c.819A>G (p.Gly273=)
NM_006118.4(HAX1):c.822T>G (p.Arg274=)
NM_006118.4(HAX1):c.831G>A (p.Arg277=)
NM_006118.4(HAX1):c.84T>C (p.Thr28=)
NM_006118.4(HAX1):c.96T>C (p.Asp32=) rs2149139550
NM_006118.4(HAX1):c.99T>C (p.Asp33=)
NM_006118.4(HAX1):c.9C>G (p.Leu3=) rs2149138508
NM_006118.4(HAX1):c.9C>T (p.Leu3=) rs2149138508

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