ClinVar Miner

List of variants in gene JAG1 studied for Isolated Nonsyndromic Congenital Heart Disease

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Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=) rs1051419 0.71278
NM_000214.3(JAG1):c.*1572A>G rs8708 0.55702
NM_000214.3(JAG1):c.-385T>G rs1051412 0.55267
NM_000214.3(JAG1):c.440-15T>C rs2273060 0.42936
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
NM_000214.3(JAG1):c.*1132T>G rs7828 0.27086
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) rs1051421 0.22213
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140 0.08364
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) rs56225585 0.07991
NM_000214.3(JAG1):c.-433G>A rs73611723 0.07399
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06947
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136 0.02367
NM_000214.3(JAG1):c.2766C>T (p.Asp922=) rs2229895 0.01701
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067 0.01238
NM_000214.3(JAG1):c.*756A>G rs45534738 0.00635
NM_000214.3(JAG1):c.*619C>T rs146144464 0.00491
NM_000214.3(JAG1):c.-384T>G rs559044448 0.00399
NM_000214.2(JAG1):c.-514G>C rs533596136 0.00192
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00121
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030 0.00109
NM_000214.3(JAG1):c.*1551C>T rs760811504 0.00101
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_000214.3(JAG1):c.1349-11T>G rs80338240 0.00076
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131 0.00045
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628 0.00044
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353 0.00040
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344 0.00039
NM_000214.3(JAG1):c.*1637A>G rs886056505 0.00037
NM_000214.3(JAG1):c.*1084G>C rs148175963 0.00030
NM_000214.3(JAG1):c.*6C>T rs376881523 0.00029
NM_000214.3(JAG1):c.2344+15C>G rs200139177 0.00029
NM_000214.3(JAG1):c.3114T>G (p.Leu1038=) rs371805640 0.00026
NM_000214.3(JAG1):c.*297C>T rs575525743 0.00025
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567 0.00022
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035 0.00019
NM_000214.3(JAG1):c.*914G>A rs111277443 0.00016
NM_000214.3(JAG1):c.2979C>T (p.Ser993=) rs542976402 0.00016
NM_000214.3(JAG1):c.1806C>T (p.His602=) rs764290237 0.00015
NM_000214.3(JAG1):c.*253C>T rs780887274 0.00014
NM_000214.3(JAG1):c.-42G>T rs374222937 0.00014
NM_000214.3(JAG1):c.*641C>A rs866626696 0.00013
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) rs142017684 0.00013
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138 0.00013
NM_000214.3(JAG1):c.*1668A>C rs943169809 0.00011
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951 0.00011
NM_000214.3(JAG1):c.2917-7G>A rs201573066 0.00010
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265 0.00009
NM_000214.3(JAG1):c.1344C>T (p.Asp448=) rs754081766 0.00007
NM_000214.3(JAG1):c.2517C>T (p.Ile839=) rs560603550 0.00007
NM_000214.3(JAG1):c.3154G>A (p.Val1052Ile) rs375200637 0.00007
NM_000214.3(JAG1):c.1015G>T (p.Ala339Ser) rs751516838 0.00006
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359 0.00006
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) rs140330283 0.00006
NM_000214.3(JAG1):c.2527C>T (p.Arg843Trp) rs201608372 0.00006
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=) rs754593633 0.00006
NM_000214.3(JAG1):c.3333C>T (p.Thr1111=) rs141439542 0.00006
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907 0.00006
NM_000214.3(JAG1):c.756-14C>T rs757351921 0.00006
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555 0.00005
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666 0.00005
NM_000214.3(JAG1):c.*1493A>G rs78471165 0.00004
NM_000214.3(JAG1):c.*970T>C rs886056510 0.00004
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993 0.00004
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00004
NM_000214.3(JAG1):c.2304C>T (p.Cys768=) rs755427292 0.00004
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val) rs142742183 0.00004
NM_000214.3(JAG1):c.3168A>C (p.Arg1056Ser) rs146006022 0.00004
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) rs542831744 0.00004
NM_000214.3(JAG1):c.439+9C>T rs374350782 0.00004
NM_000214.3(JAG1):c.3038A>T (p.His1013Leu) rs758687380 0.00003
NM_000214.3(JAG1):c.48C>A (p.Leu16=) rs901489977 0.00003
NM_000214.3(JAG1):c.2199C>T (p.Gly733=) rs756062969 0.00002
NM_000214.3(JAG1):c.2739C>T (p.Ser913=) rs766479402 0.00002
NM_000214.3(JAG1):c.282C>T (p.Phe94=) rs772592163 0.00002
NM_000214.3(JAG1):c.3200-12C>T rs754439203 0.00002
NM_000214.3(JAG1):c.388-4G>C rs567027490 0.00002
NM_000214.2(JAG1):c.-482G>A rs886056520 0.00001
NM_000214.2(JAG1):c.-507G>A rs747888489 0.00001
NM_000214.3(JAG1):c.*1224G>A rs886056506 0.00001
NM_000214.3(JAG1):c.*1612G>A rs998342074 0.00001
NM_000214.3(JAG1):c.*18C>T rs1160652210 0.00001
NM_000214.3(JAG1):c.*21C>T rs554327524 0.00001
NM_000214.3(JAG1):c.*521T>C rs755826715 0.00001
NM_000214.3(JAG1):c.*881C>T rs1191747708 0.00001
NM_000214.3(JAG1):c.-129C>T rs886056516 0.00001
NM_000214.3(JAG1):c.1377G>C (p.Gln459His) rs762746994 0.00001
NM_000214.3(JAG1):c.1659G>T (p.Glu553Asp) rs1337206941 0.00001
NM_000214.3(JAG1):c.1721-15A>G rs753524030 0.00001
NM_000214.3(JAG1):c.1791C>T (p.Asn597=) rs145910804 0.00001
NM_000214.3(JAG1):c.2000-14C>G rs777011001 0.00001
NM_000214.3(JAG1):c.2360G>A (p.Ser787Asn) rs761640153 0.00001
NM_000214.3(JAG1):c.2445C>T (p.Pro815=) rs777122869 0.00001
NM_000214.3(JAG1):c.2817C>T (p.Ser939=) rs1180418350 0.00001
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val) rs773974344 0.00001
NM_000214.3(JAG1):c.303C>T (p.Val101=) rs1212837838 0.00001
NM_000214.3(JAG1):c.3179G>A (p.Arg1060Gln) rs773538545 0.00001
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=) rs748849177 0.00001
NM_000214.3(JAG1):c.3385C>A (p.His1129Asn) rs768642155 0.00001
NM_000214.3(JAG1):c.74G>A (p.Arg25Gln) rs1265642949 0.00001
NM_000214.3(JAG1):c.755+15C>T rs761987251 0.00001
NM_000214.2(JAG1):c.-483C>T rs867504722
NM_000214.3(JAG1):c.*1093_*1097del rs886056509
NM_000214.3(JAG1):c.*1133_*1136del rs886056508
NM_000214.3(JAG1):c.*1206del rs34134142
NM_000214.3(JAG1):c.*1212_*1214del rs886056507
NM_000214.3(JAG1):c.*1440A>G rs2067244785
NM_000214.3(JAG1):c.*1511dup rs571057258
NM_000214.3(JAG1):c.*1531TG[1] rs765273169
NM_000214.3(JAG1):c.*378T>G rs886056512
NM_000214.3(JAG1):c.*398T>C rs562655817
NM_000214.3(JAG1):c.*401C>T rs886056511
NM_000214.3(JAG1):c.*486del rs3842434
NM_000214.3(JAG1):c.*563_*565del rs139536676
NM_000214.3(JAG1):c.*587T>C rs2067250788
NM_000214.3(JAG1):c.*644AAT[1] rs572952606
NM_000214.3(JAG1):c.*856dup rs3840074
NM_000214.3(JAG1):c.*959GTTT[2] rs748163677
NM_000214.3(JAG1):c.-105C>G rs886056515
NM_000214.3(JAG1):c.-185G>C rs1398348355
NM_000214.3(JAG1):c.-27C>G rs886056513
NM_000214.3(JAG1):c.-299AAG[1] rs147400796
NM_000214.3(JAG1):c.-364T>G rs886056517
NM_000214.3(JAG1):c.-375dup rs201660680
NM_000214.3(JAG1):c.-386dup rs886056519
NM_000214.3(JAG1):c.-458C>T rs146416672
NM_000214.3(JAG1):c.-465G>T rs943315478
NM_000214.3(JAG1):c.-528C>A rs191409481
NM_000214.3(JAG1):c.-6G>T rs2067513848
NM_000214.3(JAG1):c.-73G>C rs886056514
NM_000214.3(JAG1):c.-75A>G rs1208905634
NM_000214.3(JAG1):c.1013A>G (p.His338Arg) rs2067347480
NM_000214.3(JAG1):c.1023C>T (p.Leu341=) rs1297627471
NM_000214.3(JAG1):c.2665C>T (p.Arg889Trp) rs765431150
NM_000214.3(JAG1):c.294C>G (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3007G>C (p.Glu1003Gln) rs781509375
NM_000214.3(JAG1):c.331G>A (p.Ala111Thr) rs763966262

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