List of variants reported as pathogenic for autosomal recessive severe congenital neutropenia

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Total variants: 110

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HGVS	dbSNP	gnomAD frequency
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)	rs138156467	0.00026
NM_006118.4(HAX1):c.91del (p.Glu31fs)	rs764082747	0.00026
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)	rs200478425	0.00006
NM_006118.4(HAX1):c.568C>T (p.Gln190Ter)	rs74315322	0.00004
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser)	rs775224457	0.00004
NM_000760.4(CSF3R):c.1388G>A (p.Trp463Ter)	rs374536805	0.00003
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)	rs587777727	0.00003
NM_138387.4(G6PC3):c.207dup (p.Ile70fs)	rs1191239079	0.00003
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter)	rs745582203	0.00003
NM_138387.4(G6PC3):c.765_766del (p.Ala257fs)	rs748931188	0.00003
NM_006118.4(HAX1):c.256C>T (p.Arg86Ter)	rs121908165	0.00002
NM_138387.4(G6PC3):c.829C>T (p.Gln277Ter)	rs148559256	0.00002
NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter)	rs756667927	0.00001
NM_000760.4(CSF3R):c.799del (p.Glu267fs)	rs759302795	0.00001
NM_006118.4(HAX1):c.337G>T (p.Glu113Ter)	rs374758765	0.00001
NM_006118.4(HAX1):c.407del (p.His136fs)	rs748595772	0.00001
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys)	rs782269909	0.00001
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg)	rs587777730	0.00001
NM_138387.4(G6PC3):c.210del (p.Phe71fs)	rs769441127	0.00001
NM_138387.4(G6PC3):c.218+1G>A	rs772298089	0.00001
NM_138387.4(G6PC3):c.758G>A (p.Arg253His)	rs118203968	0.00001
NC_000001.10:g.(?_153963273)_(154580482_?)del
NC_000017.10:g.(?_42151508)_(42153411_?)del
NM_000760.4(CSF3R):c.1003del (p.Thr335fs)
NM_000760.4(CSF3R):c.1072-1G>A
NM_000760.4(CSF3R):c.1072-1G>C	rs992318824
NM_000760.4(CSF3R):c.1105C>T (p.Gln369Ter)
NM_000760.4(CSF3R):c.1216dup (p.Val406fs)	rs890101650
NM_000760.4(CSF3R):c.1233_1234dup (p.Asn412fs)
NM_000760.4(CSF3R):c.1245del (p.Thr416fs)	rs606231474
NM_000760.4(CSF3R):c.1404del (p.Ser469fs)	rs747437399
NM_000760.4(CSF3R):c.1488del (p.Gln498fs)
NM_000760.4(CSF3R):c.1525C>T (p.Gln509Ter)	rs1236469336
NM_000760.4(CSF3R):c.203_221del (p.Glu68fs)	rs757401069
NM_000760.4(CSF3R):c.218dup (p.Arg74fs)	rs765536522
NM_000760.4(CSF3R):c.296_299del (p.Leu99fs)
NM_000760.4(CSF3R):c.32G>A (p.Trp11Ter)	rs2124152665
NM_000760.4(CSF3R):c.642_650delinsTTGATCCCATGGATGTTGGTGTCTTGATCCCATGGATGTTG (p.Pro215_Leu217delinsTer)	rs2124127693
NM_000760.4(CSF3R):c.690dup (p.Met231fs)
NM_000760.4(CSF3R):c.769C>T (p.Gln257Ter)
NM_000760.4(CSF3R):c.78C>A (p.Cys26Ter)	rs767458386
NM_000760.4(CSF3R):c.836G>A (p.Trp279Ter)	rs1650834725
NM_000760.4(CSF3R):c.843+2T>C	rs1650834071
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys)	rs606231473
NM_000760.4(CSF3R):c.935_963del (p.Arg311_Trp312insTer)	rs1570588220
NM_000760.4(CSF3R):c.948_963del (p.His317fs)	rs606231475
NM_000760.4(CSF3R):c.998-2A>T	rs879253750
NM_001098426.2(SMARCD2):c.1181+1G>A	rs1057518731
NM_001098426.2(SMARCD2):c.401+2T>C	rs1057518733
NM_001098426.2(SMARCD2):c.414_438dup (p.Gln147delinsGluAspGlyArgTer)	rs1555580263
NM_006118.4(HAX1):c.103_106del (p.Glu35fs)
NM_006118.4(HAX1):c.11_12del (p.Leu3_Phe4insTer)
NM_006118.4(HAX1):c.125dup (p.Ser43fs)	rs745666437
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter)	rs1572018284
NM_006118.4(HAX1):c.146del (p.Pro49fs)	rs2149139668
NM_006118.4(HAX1):c.154_155dup (p.Ser53fs)
NM_006118.4(HAX1):c.163C>T (p.Gln55Ter)
NM_006118.4(HAX1):c.166del (p.His56fs)	rs2149139706
NM_006118.4(HAX1):c.16del (p.Leu6fs)
NM_006118.4(HAX1):c.173del (p.Pro58fs)
NM_006118.4(HAX1):c.173dup (p.Pro58_Glu59insTer)	rs758657008
NM_006118.4(HAX1):c.214_217dup (p.Ile73fs)	rs2149139793
NM_006118.4(HAX1):c.216_217insC (p.Ile73fs)
NM_006118.4(HAX1):c.235_236del (p.Phe79fs)	rs2149139817
NM_006118.4(HAX1):c.314dup (p.Pro105_Glu106insTer)
NM_006118.4(HAX1):c.349G>T (p.Glu117Ter)	rs1487742962
NM_006118.4(HAX1):c.368_381del (p.Gln123fs)	rs1425877227
NM_006118.4(HAX1):c.372_373insGATA (p.Leu125fs)	rs2149139969
NM_006118.4(HAX1):c.376_434del (p.Arg126fs)
NM_006118.4(HAX1):c.383C>G (p.Ser128Ter)	rs1398108109
NM_006118.4(HAX1):c.430dup (p.Val144fs)	rs770288337
NM_006118.4(HAX1):c.432del (p.Leu145fs)
NM_006118.4(HAX1):c.43G>T (p.Gly15Ter)
NM_006118.4(HAX1):c.480G>A (p.Trp160Ter)	rs1392118289
NM_006118.4(HAX1):c.487C>T (p.Gln163Ter)	rs2149140056
NM_006118.4(HAX1):c.505-1G>C
NM_006118.4(HAX1):c.518G>A (p.Trp173Ter)
NM_006118.4(HAX1):c.556+1del	rs2149140495
NM_006118.4(HAX1):c.58dup (p.Arg20fs)	rs2149139493
NM_006118.4(HAX1):c.85C>T (p.Arg29Ter)
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn)	rs879255237
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr)	rs587777728
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)	rs587777731
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp)	rs587777729
NM_138387.4(G6PC3):c.131C>T (p.Pro44Leu)
NM_138387.4(G6PC3):c.141C>G (p.Tyr47Ter)	rs118203970
NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter)
NM_138387.4(G6PC3):c.163del (p.Ile55fs)
NM_138387.4(G6PC3):c.199_218+1del	rs1597905369
NM_138387.4(G6PC3):c.210_213del (p.Phe71fs)
NM_138387.4(G6PC3):c.215del (p.Lys72fs)
NM_138387.4(G6PC3):c.218+2T>C
NM_138387.4(G6PC3):c.246G>A (p.Trp82Ter)
NM_138387.4(G6PC3):c.267C>G (p.Tyr89Ter)
NM_138387.4(G6PC3):c.346A>G (p.Met116Val)	rs267606834
NM_138387.4(G6PC3):c.376del (p.Ile125_Met126insTer)
NM_138387.4(G6PC3):c.3G>T (p.Met1Ile)
NM_138387.4(G6PC3):c.464del (p.Leu155fs)	rs1295168770
NM_138387.4(G6PC3):c.481C>T (p.Arg161Ter)
NM_138387.4(G6PC3):c.554T>C (p.Leu185Pro)	rs118203969
NM_138387.4(G6PC3):c.575dup (p.Met192fs)
NM_138387.4(G6PC3):c.62G>A (p.Trp21Ter)
NM_138387.4(G6PC3):c.635del (p.Leu212fs)	rs769634275
NM_138387.4(G6PC3):c.63G>A (p.Trp21Ter)
NM_138387.4(G6PC3):c.677+1G>A	rs778208850
NM_138387.4(G6PC3):c.758_781del (p.Arg253_Gly260del)	rs777475388
NM_138387.4(G6PC3):c.765del (p.Ala257fs)
NM_138387.4(G6PC3):c.784G>C (p.Gly262Arg)	rs118203971
NM_138387.4(G6PC3):c.911dup (p.Gln305fs)	rs34019455
NM_138387.4(G6PC3):c.935dup (p.Asn313fs)	rs797044567

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