ClinVar Miner

List of variants in gene JAG1 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.694+242C>A rs62185094 0.02607
NM_000214.3(JAG1):c.1006+202C>T rs35793014 0.02369
NM_000214.3(JAG1):c.1886-231T>G rs113194138 0.02129
NM_000214.3(JAG1):c.1885+272G>A rs112509369 0.02105
NM_000214.3(JAG1):c.439+170T>C rs143041552 0.01598
NM_000214.3(JAG1):c.2459-345C>T rs114221614 0.01565
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 0.01089
NM_000214.3(JAG1):c.1006+157A>T rs139795187 0.00893
NM_000214.3(JAG1):c.1121-205C>T rs55917221 0.00698
NM_000214.3(JAG1):c.2572+194C>G rs113708660 0.00634
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857 0.00165
NM_000214.3(JAG1):c.1120+10A>G rs201711717 0.00118
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030 0.00109
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_000214.3(JAG1):c.2458+40C>T rs199571405 0.00064
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628 0.00044
NM_000214.3(JAG1):c.2573-49C>T rs144886349 0.00044
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.2344+15C>G rs200139177 0.00029
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396 0.00024
NM_000214.3(JAG1):c.3296C>T (p.Pro1099Leu) rs200949270 0.00023
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567 0.00022
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035 0.00019
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858 0.00016
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.526G>A (p.Val176Ile) rs199674138 0.00013
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928 0.00011
NM_000214.3(JAG1):c.3567G>A (p.Thr1189=) rs373846021 0.00009
NM_000214.3(JAG1):c.1062C>T (p.Thr354=) rs201234509 0.00007
NM_000214.3(JAG1):c.3333C>T (p.Thr1111=) rs141439542 0.00006
NM_000214.3(JAG1):c.2227+9A>G rs763616526 0.00002
NM_000214.3(JAG1):c.388-4G>C rs567027490 0.00002
NM_000214.3(JAG1):c.1117A>G (p.Thr373Ala) rs1212026437 0.00001
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_000214.3(JAG1):c.3291G>C (p.Arg1097=) rs1600177787 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.*2A>G rs879254256
NM_000214.3(JAG1):c.-299AAG[1] rs147400796
NM_000214.3(JAG1):c.-458C>T rs146416672
NM_000214.3(JAG1):c.-75_-61dup rs1555831023
NM_000214.3(JAG1):c.1349-16C>G rs1057523387
NM_000214.3(JAG1):c.1720+172G>T rs143716483
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.3149C>T (p.Ala1050Val) rs764799076
NM_000214.3(JAG1):c.440-3T>C rs1292445129
NM_000214.3(JAG1):c.51G>A (p.Leu17=) rs1018632242

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