ClinVar Miner

List of variants in gene JAG1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.2917-30A>G rs6108652 0.02177
NM_000214.3(JAG1):c.2573-16C>T rs112196689 0.00608
NM_000214.3(JAG1):c.1570-28C>G rs144983462 0.00425
NM_000214.3(JAG1):c.886+19A>T rs200311847 0.00226
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_000214.3(JAG1):c.439+10G>A rs201371037 0.00081
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
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.82G>C (p.Val28Leu) rs142855305 0.00031
NM_000214.3(JAG1):c.*6C>T rs376881523 0.00029
NM_000214.3(JAG1):c.3280C>T (p.Arg1094Trp) rs75652750 0.00024
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.1348+3G>A rs368718180 0.00022
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858 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.1043G>A (p.Arg348Lys) rs200227737 0.00014
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.1146C>T (p.Asn382=) rs200133928 0.00011
NM_000214.3(JAG1):c.1608C>T (p.Asn536=) rs200648453 0.00010
NM_000214.3(JAG1):c.3003T>A (p.Ala1001=) rs775926205 0.00008
NM_000214.3(JAG1):c.3006C>T (p.Cys1002=) rs372984801 0.00008
NM_000214.3(JAG1):c.1062C>T (p.Thr354=) rs201234509 0.00007
NM_000214.3(JAG1):c.1383C>T (p.Asp461=) rs140604589 0.00006
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359 0.00006
NM_000214.3(JAG1):c.204C>T (p.Arg68=) rs565407240 0.00006
NM_000214.3(JAG1):c.2298T>C (p.Phe766=) rs771544217 0.00006
NM_000214.3(JAG1):c.3333C>T (p.Thr1111=) rs141439542 0.00006
NM_000214.3(JAG1):c.1195G>A (p.Val399Met) rs181970528 0.00005
NM_000214.3(JAG1):c.2673C>T (p.Ala891=) rs149889701 0.00005
NM_000214.3(JAG1):c.2781C>T (p.Val927=) rs746664646 0.00005
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666 0.00005
NM_000214.3(JAG1):c.3168A>C (p.Arg1056Ser) rs146006022 0.00004
NM_000214.3(JAG1):c.400T>C (p.Leu134=) rs140511204 0.00004
NM_000214.3(JAG1):c.439+9C>T rs374350782 0.00004
NM_000214.3(JAG1):c.522G>A (p.Thr174=) rs751230029 0.00004
NM_000214.3(JAG1):c.1797T>C (p.Cys599=) rs746760284 0.00003
NM_000214.3(JAG1):c.2250C>T (p.Pro750=) rs368675736 0.00003
NM_000214.3(JAG1):c.2550C>T (p.His850=) rs777696420 0.00003
NM_000214.3(JAG1):c.3141G>A (p.Ser1047=) rs202075581 0.00003
NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr) rs769242977 0.00003
NM_000214.3(JAG1):c.1224G>A (p.Thr408=) rs771839716 0.00002
NM_000214.3(JAG1):c.1707G>A (p.Thr569=) rs745608068 0.00002
NM_000214.3(JAG1):c.1720+5C>T rs757230587 0.00002
NM_000214.3(JAG1):c.2199C>T (p.Gly733=) rs756062969 0.00002
NM_000214.3(JAG1):c.2724C>T (p.His908=) rs765884543 0.00002
NM_000214.3(JAG1):c.489C>T (p.Pro163=) rs376298235 0.00002
NM_000214.3(JAG1):c.1101C>T (p.Thr367=) rs766771784 0.00001
NM_000214.3(JAG1):c.1536G>A (p.Leu512=) rs375773178 0.00001
NM_000214.3(JAG1):c.1971C>T (p.Asp657=) rs368661822 0.00001
NM_000214.3(JAG1):c.2148C>T (p.Asn716=) rs550565756 0.00001
NM_000214.3(JAG1):c.2345-10T>G rs752854231 0.00001
NM_000214.3(JAG1):c.390G>A (p.Arg130=) rs1417166073 0.00001
NM_000214.3(JAG1):c.*8C>T
NM_000214.3(JAG1):c.1014C>T (p.His338=) rs199971175
NM_000214.3(JAG1):c.1234+21_1234+22del rs778949148
NM_000214.3(JAG1):c.1349-18G>A
NM_000214.3(JAG1):c.1349-19_1349-17del rs756384545
NM_000214.3(JAG1):c.1349-8dup rs767319365
NM_000214.3(JAG1):c.135G>T (p.Val45=)
NM_000214.3(JAG1):c.1395+8A>T
NM_000214.3(JAG1):c.1396-9_1396-7del rs759287559
NM_000214.3(JAG1):c.1656C>T (p.Pro552=)
NM_000214.3(JAG1):c.1845T>C (p.Cys615=)
NM_000214.3(JAG1):c.2415G>C (p.Arg805=)
NM_000214.3(JAG1):c.2418C>T (p.Cys806=)
NM_000214.3(JAG1):c.2459-10T>C
NM_000214.3(JAG1):c.294C>G (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3000C>T (p.Ile1000=) rs373759023
NM_000214.3(JAG1):c.3048+30_3048+32del rs759022807
NM_000214.3(JAG1):c.3531G>A (p.Thr1177=) rs778296544
NM_000214.3(JAG1):c.3651C>A (p.Ile1217=)
NM_000214.3(JAG1):c.36C>T (p.Arg12=)
NM_000214.3(JAG1):c.387+6_387+7del
NM_000214.3(JAG1):c.435C>A (p.Thr145=) rs747879633
NM_000214.3(JAG1):c.435C>T (p.Thr145=) rs747879633
NM_000214.3(JAG1):c.48C>T (p.Leu16=) rs901489977

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