ClinVar Miner

List of variants in gene JAGN1 reported as uncertain significance for autosomal recessive severe congenital neutropenia due to JAGN1 deficiency

Included ClinVar conditions (1):
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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile) rs150797085 0.00016
NM_032492.4(JAGN1):c.64C>T (p.Arg22Cys) rs146967886 0.00011
NM_032492.4(JAGN1):c.522C>G (p.Phe174Leu) rs370035886 0.00009
NM_032492.4(JAGN1):c.541A>C (p.Lys181Gln) rs754191323 0.00009
NM_032492.4(JAGN1):c.89+4T>C rs571856698 0.00009
NM_032492.4(JAGN1):c.433G>A (p.Val145Ile) rs759636820 0.00004
NM_032492.4(JAGN1):c.71C>T (p.Ala24Val) rs377495463 0.00004
NM_032492.4(JAGN1):c.184C>T (p.Leu62Phe) rs768937406 0.00003
NM_032492.4(JAGN1):c.211C>T (p.Pro71Ser) rs200023062 0.00003
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) rs587777727 0.00003
NM_032492.4(JAGN1):c.127G>A (p.Val43Ile) rs778975542 0.00002
NM_032492.4(JAGN1):c.379C>T (p.Gln127Ter) rs771407343 0.00002
NM_032492.4(JAGN1):c.421G>C (p.Gly141Arg) rs762857972 0.00002
NM_032492.4(JAGN1):c.443T>C (p.Met148Thr) rs752997945 0.00002
NM_032492.4(JAGN1):c.11G>C (p.Arg4Pro) rs569985954 0.00001
NM_032492.4(JAGN1):c.124T>C (p.Tyr42His) rs753747801 0.00001
NM_032492.4(JAGN1):c.172G>A (p.Gly58Arg) rs919986813 0.00001
NM_032492.4(JAGN1):c.179T>C (p.Leu60Pro) rs1297627583 0.00001
NM_032492.4(JAGN1):c.319A>G (p.Met107Val) rs776475085 0.00001
NM_032492.4(JAGN1):c.334A>G (p.Ile112Val) rs762026143 0.00001
NM_032492.4(JAGN1):c.389A>G (p.Tyr130Cys) rs779485881 0.00001
NM_032492.4(JAGN1):c.503A>G (p.Lys168Arg) rs749080431 0.00001
NM_032492.4(JAGN1):c.542A>G (p.Lys181Arg) rs1387440057 0.00001
NM_032492.4(JAGN1):c.56A>G (p.His19Arg) rs748123071 0.00001
NM_032492.4(JAGN1):c.59G>A (p.Arg20Gln) rs777966677 0.00001
NC_000003.11:g.(?_9932387)_(9935081_?)dup
NM_032492.4(JAGN1):c.111C>G (p.Ile37Met) rs1215307853
NM_032492.4(JAGN1):c.11G>T (p.Arg4Leu) rs569985954
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) rs587777728
NM_032492.4(JAGN1):c.142T>C (p.Trp48Arg)
NM_032492.4(JAGN1):c.145C>G (p.Leu49Val) rs2125061097
NM_032492.4(JAGN1):c.163A>T (p.Met55Leu) rs1311043090
NM_032492.4(JAGN1):c.193C>T (p.His65Tyr) rs2125061122
NM_032492.4(JAGN1):c.205G>A (p.Ala69Thr) rs2082573376
NM_032492.4(JAGN1):c.211C>A (p.Pro71Thr) rs200023062
NM_032492.4(JAGN1):c.215A>G (p.Tyr72Cys)
NM_032492.4(JAGN1):c.24_60del (p.Ala9fs)
NM_032492.4(JAGN1):c.258_259del (p.Leu87fs) rs1232664557
NM_032492.4(JAGN1):c.259_260del (p.Leu87fs)
NM_032492.4(JAGN1):c.260T>C (p.Leu87Ser) rs1433604133
NM_032492.4(JAGN1):c.268C>T (p.Leu90Phe)
NM_032492.4(JAGN1):c.280C>G (p.Arg94Gly) rs866176976
NM_032492.4(JAGN1):c.295T>A (p.Tyr99Asn)
NM_032492.4(JAGN1):c.310A>G (p.Met104Val)
NM_032492.4(JAGN1):c.313A>G (p.Ile105Val)
NM_032492.4(JAGN1):c.317G>A (p.Ser106Asn) rs2082574453
NM_032492.4(JAGN1):c.346A>G (p.Ile116Val) rs1467031121
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del) rs587777731
NM_032492.4(JAGN1):c.392G>A (p.Arg131His) rs542419840
NM_032492.4(JAGN1):c.394C>T (p.His132Tyr) rs1444848644
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser) rs786205704
NM_032492.4(JAGN1):c.419T>G (p.Phe140Cys)
NM_032492.4(JAGN1):c.41G>A (p.Gly14Asp) rs1575466167
NM_032492.4(JAGN1):c.420del (p.Phe140fs)
NM_032492.4(JAGN1):c.43A>G (p.Ser15Gly) rs943577194
NM_032492.4(JAGN1):c.46G>T (p.Asp16Tyr) rs1177521463
NM_032492.4(JAGN1):c.496A>T (p.Ser166Cys) rs372426169
NM_032492.4(JAGN1):c.505C>T (p.Leu169Phe)
NM_032492.4(JAGN1):c.517T>A (p.Trp173Arg) rs2082575975
NM_032492.4(JAGN1):c.519G>T (p.Trp173Cys) rs1043365547
NM_032492.4(JAGN1):c.51T>G (p.Phe17Leu)
NM_032492.4(JAGN1):c.538AAG[1] (p.Lys181del) rs756989255
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729
NM_032492.4(JAGN1):c.70_76del (p.Ala24fs) rs2082557086
NM_032492.4(JAGN1):c.74T>C (p.Met25Thr)
NM_032492.4(JAGN1):c.77A>T (p.His26Leu) rs1559259122
NM_032492.4(JAGN1):c.89+1G>A
NM_032492.4(JAGN1):c.89G>A (p.Ser30Asn)

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