ClinVar Miner

List of variants in gene JAG1 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140 0.08777
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06845
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_000214.3(JAG1):c.694+242C>A rs62185094 0.02607
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136 0.02472
NM_000214.3(JAG1):c.1006+202C>T rs35793014 0.02369
NM_000214.3(JAG1):c.2917-30A>G rs6108652 0.02177
NM_000214.3(JAG1):c.1885+272G>A rs112509369 0.02167
NM_000214.3(JAG1):c.1886-231T>G rs113194138 0.02129
NM_000214.3(JAG1):c.439+170T>C rs143041552 0.01481
NM_000214.3(JAG1):c.2459-345C>T rs114221614 0.01462
NM_000214.3(JAG1):c.388-229C>T rs141132457 0.01419
NM_000214.3(JAG1):c.2572+281C>T rs116310079 0.01202
NM_000214.3(JAG1):c.1999+173A>G rs116234949 0.01014
NM_000214.3(JAG1):c.1006+157A>T rs139795187 0.00893
NM_000214.3(JAG1):c.1121-205C>T rs55917221 0.00647
NM_000214.3(JAG1):c.2572+194C>G rs113708660 0.00634
NM_000214.3(JAG1):c.2573-16C>T rs112196689 0.00568
NM_000214.3(JAG1):c.-384T>G rs559044448 0.00399
NM_000214.3(JAG1):c.1721-21G>A rs35357944 0.00396
NM_000214.3(JAG1):c.886+19A>T rs200311847 0.00218
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857 0.00153
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00119
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030 0.00089
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_000214.3(JAG1):c.2573-49C>T rs144886349 0.00066
NM_000214.3(JAG1):c.2458+40C>T rs199571405 0.00062
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000214.3(JAG1):c.1389C>T (p.Ser463=) rs147229008 0.00051
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131 0.00044
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628 0.00042
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028 0.00041
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344 0.00039
NM_000214.3(JAG1):c.388-4G>C rs567027490 0.00031
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035 0.00026
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993 0.00024
NM_000214.3(JAG1):c.3296C>T (p.Pro1099Leu) rs200949270 0.00023
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567 0.00020
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138 0.00019
NM_000214.3(JAG1):c.-42G>T rs374222937 0.00014
NM_000214.3(JAG1):c.1043G>A (p.Arg348Lys) rs200227737 0.00014
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) rs143966918 0.00014
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) rs144190443 0.00013
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928 0.00011
NM_000214.3(JAG1):c.1608C>T (p.Asn536=) rs200648453 0.00009
NM_000214.3(JAG1):c.3567G>A (p.Thr1189=) rs373846021 0.00008
NM_000214.3(JAG1):c.1062C>T (p.Thr354=) rs201234509 0.00007
NM_000214.3(JAG1):c.1344C>T (p.Asp448=) rs754081766 0.00007
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359 0.00006
NM_000214.3(JAG1):c.1383C>T (p.Asp461=) rs140604589 0.00005
NM_000214.3(JAG1):c.1720+16C>T rs374498402 0.00005
NM_000214.3(JAG1):c.2927C>T (p.Thr976Met) rs751809412 0.00005
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666 0.00005
NM_000214.3(JAG1):c.2227+9A>G rs763616526 0.00003
NM_000214.3(JAG1):c.1308C>T (p.Cys436=) rs764485729 0.00002
NM_000214.3(JAG1):c.2049C>T (p.Arg683=) rs1389234825 0.00002
NM_000214.3(JAG1):c.2199C>T (p.Gly733=) rs756062969 0.00002
NM_000214.3(JAG1):c.3199+13T>C rs762372882 0.00002
NM_000214.3(JAG1):c.1536G>A (p.Leu512=) rs375773178 0.00001
NM_000214.3(JAG1):c.2502C>T (p.Thr834=) rs779052259 0.00001
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_000214.3(JAG1):c.264C>T (p.Ala88=) rs1473297367 0.00001
NM_000214.3(JAG1):c.3291G>C (p.Arg1097=) rs1600177787 0.00001
NM_000214.3(JAG1):c.3564C>T (p.Gly1188=) rs376816243 0.00001
NM_000214.3(JAG1):c.3573A>C (p.Thr1191=) rs762774678 0.00001
NM_000214.3(JAG1):c.573C>T (p.Tyr191=) rs766426780 0.00001
NC_000020.11:g.10674180C>T rs140761913
NM_000214.3(JAG1):c.*1531TG[1] rs765273169
NM_000214.3(JAG1):c.*959GTTT[2] rs748163677
NM_000214.3(JAG1):c.-299AAG[1] rs147400796
NM_000214.3(JAG1):c.-458C>T rs146416672
NM_000214.3(JAG1):c.1720+172G>T rs143716483
NM_000214.3(JAG1):c.1881T>C (p.His627=) rs2067313363
NM_000214.3(JAG1):c.2000-190_2000-188dup rs55752058
NM_000214.3(JAG1):c.222C>T (p.Tyr74=) rs1600196465
NM_000214.3(JAG1):c.2372+80GA[3] rs113910163
NM_000214.3(JAG1):c.2826G>A (p.Gln942=) rs760765525
NM_000214.3(JAG1):c.3149C>T (p.Ala1050Val) rs764799076
NM_000214.3(JAG1):c.3318C>T (p.Ala1106=) rs751836991
NM_000214.3(JAG1):c.3531G>A (p.Thr1177=) rs778296544
NM_000214.3(JAG1):c.440-3T>C rs1292445129
NM_000214.3(JAG1):c.51G>A (p.Leu17=) rs1018632242
NM_000214.3(JAG1):c.807G>C (p.Pro269=) rs753646278

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