ClinVar Miner

List of variants in gene JAGN1 studied for autosomal recessive disease

Included ClinVar conditions (1167):
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Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_032492.4(JAGN1):c.96T>C (p.Thr32=) rs279553 0.69356
NM_032492.4(JAGN1):c.244A>G (p.Ile82Val) rs35365817 0.02315
NM_032492.4(JAGN1):c.403G>A (p.Ala135Thr) rs61746084 0.01094
NM_032492.4(JAGN1):c.498C>T (p.Ser166=) rs61738795 0.00399
NM_032492.4(JAGN1):c.21G>C (p.Pro7=) rs138937423 0.00299
NM_032492.4(JAGN1):c.1A>G (p.Met1Val) rs143438463 0.00267
NM_032492.4(JAGN1):c.90-20C>T rs187981807 0.00144
NM_032492.4(JAGN1):c.315C>A (p.Ile105=) rs185449117 0.00064
NM_032492.4(JAGN1):c.270C>T (p.Leu90=) rs143617732 0.00032
NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile) rs150797085 0.00016
NM_032492.4(JAGN1):c.90-19C>T rs201733831 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.189G>A (p.Leu63=) rs748678543 0.00006
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.27G>A (p.Ala9=) rs764805098 0.00003
NM_032492.4(JAGN1):c.336C>T (p.Ile112=) rs368122140 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.12A>G (p.Arg4=) rs377365266 0.00002
NM_032492.4(JAGN1):c.30C>T (p.Ala10=) rs549030325 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.432C>T (p.Ala144=) rs766336706 0.00002
NM_032492.4(JAGN1):c.443T>C (p.Met148Thr) rs752997945 0.00002
NM_032492.4(JAGN1):c.480C>T (p.Ala160=) rs779442557 0.00002
NM_032492.4(JAGN1):c.90T>C (p.Ser30=) rs201225696 0.00002
NM_032492.4(JAGN1):c.117G>A (p.Lys39=) rs763900045 0.00001
NM_032492.4(JAGN1):c.11G>C (p.Arg4Pro) rs569985954 0.00001
NM_032492.4(JAGN1):c.123C>A (p.Ile41=) rs140024249 0.00001
NM_032492.4(JAGN1):c.124T>C (p.Tyr42His) rs753747801 0.00001
NM_032492.4(JAGN1):c.168C>T (p.Ser56=) rs1265469155 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.330T>C (p.Phe110=) rs2082574589 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.39C>T (p.Asp13=) rs751452713 0.00001
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg) rs587777730 0.00001
NM_032492.4(JAGN1):c.503A>G (p.Lys168Arg) rs749080431 0.00001
NM_032492.4(JAGN1):c.52C>A (p.Gln18Lys) rs200485958 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
NM_032492.4(JAGN1):c.90-9G>C rs762370289 0.00001
NC_000003.11:g.(?_9932387)_(9935081_?)dup
NM_032492.4(JAGN1):c.*9T>C rs11554811
NM_032492.4(JAGN1):c.102G>A (p.Lys34=)
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.120G>A (p.Leu40=) rs2082572609
NM_032492.4(JAGN1):c.126C>T (p.Tyr42=)
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) rs587777728
NM_032492.4(JAGN1):c.138C>T (p.Val46=) rs528473640
NM_032492.4(JAGN1):c.142T>C (p.Trp48Arg)
NM_032492.4(JAGN1):c.145C>G (p.Leu49Val) rs2125061097
NM_032492.4(JAGN1):c.159T>C (p.Ala53=) rs201196372
NM_032492.4(JAGN1):c.163A>T (p.Met55Leu) rs1311043090
NM_032492.4(JAGN1):c.186C>G (p.Leu62=) rs776988033
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.264C>T (p.Gly88=)
NM_032492.4(JAGN1):c.268C>T (p.Leu90Phe)
NM_032492.4(JAGN1):c.279C>T (p.Pro93=) rs1444280254
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.327C>G (p.Leu109=)
NM_032492.4(JAGN1):c.339T>C (p.Ala113=)
NM_032492.4(JAGN1):c.346A>G (p.Ile116Val) rs1467031121
NM_032492.4(JAGN1):c.354C>T (p.Gly118=)
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del) rs587777731
NM_032492.4(JAGN1):c.36C>G (p.Thr12=)
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.525C>G (p.Thr175=)
NM_032492.4(JAGN1):c.538AAG[1] (p.Lys181del) rs756989255
NM_032492.4(JAGN1):c.540G>A (p.Lys180=)
NM_032492.4(JAGN1):c.57C>T (p.His19=) rs2082556963
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.78C>T (p.His26=)
NM_032492.4(JAGN1):c.89+15G>T
NM_032492.4(JAGN1):c.89+1G>A
NM_032492.4(JAGN1):c.89G>A (p.Ser30Asn)
NM_032492.4(JAGN1):c.90-13C>G
NM_032492.4(JAGN1):c.90-16C>T
NM_032492.4(JAGN1):c.90-18C>G rs371744656

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