ClinVar Miner

List of variants studied for Kostmann syndrome by Natera, Inc.

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Total variants: 45
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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.91del (p.Glu31fs) rs764082747 0.00026
NM_006118.4(HAX1):c.15T>A (p.Asp5Glu) rs201078819 0.00021
NM_006118.4(HAX1):c.829C>T (p.Arg277Trp) rs138296453 0.00018
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu) rs146152769 0.00016
NM_006118.4(HAX1):c.505-4G>A rs186219647 0.00010
NM_006118.4(HAX1):c.317-2A>G rs371504152 0.00009
NM_006118.4(HAX1):c.102T>G (p.Asp34Glu) rs141512965 0.00008
NM_006118.4(HAX1):c.160C>G (p.Pro54Ala) rs139205111 0.00007
NM_006118.4(HAX1):c.679C>T (p.Arg227Trp) rs200890522 0.00007
NM_006118.4(HAX1):c.122G>T (p.Gly41Val) rs369987963 0.00006
NM_006118.4(HAX1):c.676C>T (p.Arg226Cys) rs765780829 0.00005
NM_006118.4(HAX1):c.835C>T (p.Arg279Trp) rs780000169 0.00005
NM_006118.4(HAX1):c.339G>C (p.Glu113Asp) rs367673863 0.00004
NM_006118.4(HAX1):c.525G>A (p.Met175Ile) rs747655324 0.00004
NM_006118.4(HAX1):c.574T>C (p.Ser192Pro) rs751426915 0.00004
NM_006118.4(HAX1):c.757C>A (p.Pro253Thr) rs149721308 0.00004
NM_006118.4(HAX1):c.704G>A (p.Arg235Gln) rs139138892 0.00003
NM_006118.4(HAX1):c.11T>C (p.Phe4Ser) rs780614125 0.00002
NM_006118.4(HAX1):c.168C>A (p.His56Gln) rs756371972 0.00002
NM_006118.4(HAX1):c.256C>T (p.Arg86Ter) rs121908165 0.00002
NM_006118.4(HAX1):c.411G>A (p.Gln137=) rs766622654 0.00002
NM_006118.4(HAX1):c.150G>T (p.Arg50Ser) rs762584289 0.00001
NM_006118.4(HAX1):c.193T>G (p.Phe65Val) rs1648509630 0.00001
NM_006118.4(HAX1):c.36C>G (p.Gly12=) rs201477841 0.00001
NM_006118.4(HAX1):c.461C>T (p.Pro154Leu) rs1389861333 0.00001
NM_006118.4(HAX1):c.46C>T (p.Pro16Ser) rs763746492 0.00001
NM_006118.4(HAX1):c.505-9C>T rs779604569 0.00001
NM_006118.4(HAX1):c.571G>A (p.Val191Ile) rs1024291441 0.00001
NM_006118.4(HAX1):c.685G>C (p.Val229Leu) rs1465330876 0.00001
NM_006118.4(HAX1):c.811T>C (p.Phe271Leu) rs375704974 0.00001
NM_006118.4(HAX1):c.105_110dup (p.Glu39_Glu40dup) rs755700193
NM_006118.4(HAX1):c.107AAG[4] (p.Glu40del) rs753894148
NM_006118.4(HAX1):c.125G>A (p.Gly42Asp) rs1001600867
NM_006118.4(HAX1):c.125dup (p.Ser43fs) rs745666437
NM_006118.4(HAX1):c.182T>G (p.Phe61Cys) rs146452018
NM_006118.4(HAX1):c.18C>G (p.Leu6=) rs375735851
NM_006118.4(HAX1):c.207AGG[2] (p.Gly72del) rs1558251515
NM_006118.4(HAX1):c.289G>T (p.Ala97Ser) rs1684869052
NM_006118.4(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006118.4(HAX1):c.436G>A (p.Glu146Lys) rs114883767
NM_006118.4(HAX1):c.820C>T (p.Arg274Cys) rs753078666

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