ClinVar Miner

List of variants in gene JAG1 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
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.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.894T>C (p.Asn298=) rs149897344 0.00039
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353 0.00037
NM_000214.3(JAG1):c.2604T>C (p.Ser868=) rs138189639 0.00032
NM_000214.3(JAG1):c.388-4G>C rs567027490 0.00031
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) rs151291264 0.00029
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035 0.00026
NM_000214.3(JAG1):c.3114T>G (p.Leu1038=) rs371805640 0.00026
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305 0.00026
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993 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.3507G>C (p.Arg1169=) rs138452567 0.00020
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138 0.00019
NM_000214.3(JAG1):c.2979C>T (p.Ser993=) rs542976402 0.00016
NM_000214.3(JAG1):c.1806C>T (p.His602=) rs764290237 0.00013
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) rs144190443 0.00013
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) rs142017684 0.00013
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928 0.00011
NM_000214.3(JAG1):c.1335G>A (p.Gln445=) rs759545669 0.00009
NM_000214.3(JAG1):c.1608C>T (p.Asn536=) rs200648453 0.00009
NM_000214.3(JAG1):c.3006C>T (p.Cys1002=) rs372984801 0.00008
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.3003T>A (p.Ala1001=) rs775926205 0.00007
NM_000214.3(JAG1):c.2298T>C (p.Phe766=) rs771544217 0.00006
NM_000214.3(JAG1):c.2877G>A (p.Ala959=) rs142085300 0.00006
NM_000214.3(JAG1):c.3333C>T (p.Thr1111=) rs141439542 0.00006
NM_000214.3(JAG1):c.1383C>T (p.Asp461=) rs140604589 0.00005
NM_000214.3(JAG1):c.204C>T (p.Arg68=) rs565407240 0.00005
NM_000214.3(JAG1):c.2499G>A (p.Ala833=) rs201954371 0.00005
NM_000214.3(JAG1):c.2673C>T (p.Ala891=) rs149889701 0.00005
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=) rs754593633 0.00005
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666 0.00005
NM_000214.3(JAG1):c.1182C>T (p.Asn394=) rs372951958 0.00004
NM_000214.3(JAG1):c.2139G>A (p.Thr713=) rs374177670 0.00004
NM_000214.3(JAG1):c.27G>C (p.Arg9=) rs766143399 0.00004
NM_000214.3(JAG1):c.2829G>A (p.Pro943=) rs546984480 0.00004
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) rs542831744 0.00004
NM_000214.3(JAG1):c.400T>C (p.Leu134=) rs140511204 0.00004
NM_000214.3(JAG1):c.111G>A (p.Leu37=) rs186930289 0.00003
NM_000214.3(JAG1):c.1230G>A (p.Gln410=) rs748150117 0.00003
NM_000214.3(JAG1):c.135G>T (p.Val45=) rs1193959313 0.00003
NM_000214.3(JAG1):c.1365T>G (p.Leu455=) rs376346902 0.00003
NM_000214.3(JAG1):c.1797T>C (p.Cys599=) rs746760284 0.00003
NM_000214.3(JAG1):c.2280G>T (p.Val760=) rs1030098117 0.00003
NM_000214.3(JAG1):c.2394G>A (p.Val798=) rs1374399223 0.00003
NM_000214.3(JAG1):c.2934C>T (p.His978=) rs562786709 0.00003
NM_000214.3(JAG1):c.3132A>C (p.Gly1044=) rs777611657 0.00003
NM_000214.3(JAG1):c.3141G>A (p.Ser1047=) rs202075581 0.00003
NM_000214.3(JAG1):c.3525G>A (p.Ala1175=) rs745431482 0.00003
NM_000214.3(JAG1):c.48C>A (p.Leu16=) rs901489977 0.00003
NM_000214.3(JAG1):c.819C>T (p.His273=) rs368502056 0.00003
NM_000214.3(JAG1):c.1224G>A (p.Thr408=) rs771839716 0.00002
NM_000214.3(JAG1):c.1308C>T (p.Cys436=) rs764485729 0.00002
NM_000214.3(JAG1):c.1707G>A (p.Thr569=) rs745608068 0.00002
NM_000214.3(JAG1):c.2049C>T (p.Arg683=) rs1389234825 0.00002
NM_000214.3(JAG1):c.2550C>T (p.His850=) rs777696420 0.00002
NM_000214.3(JAG1):c.2724C>T (p.His908=) rs765884543 0.00002
NM_000214.3(JAG1):c.2803G>A (p.Glu935Lys) rs753161584 0.00002
NM_000214.3(JAG1):c.2853C>T (p.Asp951=) rs770380587 0.00002
NM_000214.3(JAG1):c.288A>G (p.Ser96=) rs1179488110 0.00002
NM_000214.3(JAG1):c.327C>T (p.Leu109=) rs751316740 0.00002
NM_000214.3(JAG1):c.3477C>T (p.Asp1159=) rs765431052 0.00002
NM_000214.3(JAG1):c.3561C>T (p.Asn1187=) rs754010868 0.00002
NM_000214.3(JAG1):c.489C>T (p.Pro163=) rs376298235 0.00002
NM_000214.3(JAG1):c.867C>T (p.Gly289=) rs144935832 0.00002
NM_000214.3(JAG1):c.975T>G (p.Pro325=) rs1179713453 0.00002
NM_000214.3(JAG1):c.1047C>A (p.Gly349=) rs2067347196 0.00001
NM_000214.3(JAG1):c.1092A>G (p.Pro364=) rs936351059 0.00001
NM_000214.3(JAG1):c.1101C>T (p.Thr367=) rs766771784 0.00001
NM_000214.3(JAG1):c.1155C>T (p.His385=) rs531019589 0.00001
NM_000214.3(JAG1):c.1269C>T (p.Asn423=) rs200498563 0.00001
NM_000214.3(JAG1):c.1536G>A (p.Leu512=) rs375773178 0.00001
NM_000214.3(JAG1):c.1551C>T (p.Phe517=) rs757282924 0.00001
NM_000214.3(JAG1):c.1680C>T (p.Cys560=) rs886041868 0.00001
NM_000214.3(JAG1):c.1704C>T (p.Arg568=) rs144985667 0.00001
NM_000214.3(JAG1):c.1710C>T (p.Thr570=) rs781005644 0.00001
NM_000214.3(JAG1):c.1794C>T (p.Val598=) rs200580391 0.00001
NM_000214.3(JAG1):c.1866G>A (p.Thr622=) rs140624746 0.00001
NM_000214.3(JAG1):c.1872A>T (p.Thr624=) rs1283750850 0.00001
NM_000214.3(JAG1):c.1971C>T (p.Asp657=) rs368661822 0.00001
NM_000214.3(JAG1):c.2136C>A (p.Ala712=) rs764453922 0.00001
NM_000214.3(JAG1):c.2148C>T (p.Asn716=) rs550565756 0.00001
NM_000214.3(JAG1):c.2252A>G (p.Asn751Ser) rs761942250 0.00001
NM_000214.3(JAG1):c.2430G>A (p.Pro810=) rs1450269980 0.00001
NM_000214.3(JAG1):c.2445C>T (p.Pro815=) rs777122869 0.00001
NM_000214.3(JAG1):c.2451C>T (p.Cys817=) rs747532570 0.00001
NM_000214.3(JAG1):c.2502C>T (p.Thr834=) rs779052259 0.00001
NM_000214.3(JAG1):c.2517C>T (p.Ile839=) rs560603550 0.00001
NM_000214.3(JAG1):c.2529G>T (p.Arg843=) rs1040952174 0.00001
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_000214.3(JAG1):c.2589C>T (p.Cys863=) rs763502541 0.00001
NM_000214.3(JAG1):c.264C>T (p.Ala88=) rs1473297367 0.00001
NM_000214.3(JAG1):c.2727C>T (p.Ser909=) rs561945870 0.00001
NM_000214.3(JAG1):c.2739C>T (p.Ser913=) rs766479402 0.00001
NM_000214.3(JAG1):c.2817C>T (p.Ser939=) rs1180418350 0.00001
NM_000214.3(JAG1):c.3024G>A (p.Ala1008=) rs1448768095 0.00001
NM_000214.3(JAG1):c.3081G>A (p.Pro1027=) rs766664730 0.00001
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=) rs748849177 0.00001
NM_000214.3(JAG1):c.3307A>G (p.Thr1103Ala) rs750032058 0.00001
NM_000214.3(JAG1):c.332C>T (p.Ala111Val) rs574034950 0.00001
NM_000214.3(JAG1):c.3342C>T (p.Asn1114=) rs759853433 0.00001
NM_000214.3(JAG1):c.3387T>C (p.His1129=) rs774990729 0.00001
NM_000214.3(JAG1):c.33G>T (p.Gly11=) rs1468438751 0.00001
NM_000214.3(JAG1):c.3540C>T (p.Asp1180=) rs963076704 0.00001
NM_000214.3(JAG1):c.3558C>T (p.Pro1186=) rs1476387143 0.00001
NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser) rs1051571820 0.00001
NM_000214.3(JAG1):c.3591A>C (p.Thr1197=) rs531698711 0.00001
NM_000214.3(JAG1):c.3606C>T (p.Asn1202=) rs771820710 0.00001
NM_000214.3(JAG1):c.390G>A (p.Arg130=) rs1417166073 0.00001
NM_000214.3(JAG1):c.474G>A (p.Ser158=) rs555794483 0.00001
NM_000214.3(JAG1):c.606C>A (p.Pro202=) rs2122623600 0.00001
NM_000214.3(JAG1):c.681C>T (p.Pro227=) rs748982554 0.00001
NM_000214.3(JAG1):c.702C>T (p.Cys234=) rs202109974 0.00001
NM_000214.3(JAG1):c.732T>G (p.Ser244=) rs577656334 0.00001
NM_000214.3(JAG1):c.807G>A (p.Pro269=) rs753646278 0.00001
NM_000214.3(JAG1):c.837C>A (p.Pro279=) rs1206675987 0.00001
NM_000214.3(JAG1):c.915G>A (p.Pro305=) rs371165309 0.00001
NM_000214.3(JAG1):c.939C>T (p.Ser313=) rs1386388149 0.00001
NM_000214.3(JAG1):c.945A>G (p.Thr315=) rs1158585077 0.00001
NM_000214.3(JAG1):c.978G>A (p.Glu326=) rs1480738447 0.00001
NM_000214.3(JAG1):c.993C>T (p.Pro331=) rs1294629128 0.00001
NM_000214.3(JAG1):c.108G>A (p.Glu36=)
NM_000214.3(JAG1):c.109T>C (p.Leu37=)
NM_000214.3(JAG1):c.1209G>A (p.Gln403=) rs2514519132
NM_000214.3(JAG1):c.1251G>A (p.Glu417=) rs2514518399
NM_000214.3(JAG1):c.1254C>T (p.Ala418=) rs1024248881
NM_000214.3(JAG1):c.1290C>T (p.Leu430=) rs965197143
NM_000214.3(JAG1):c.1338T>C (p.Asn446=) rs2514518300
NM_000214.3(JAG1):c.1392T>C (p.Cys464=) rs2514517825
NM_000214.3(JAG1):c.1407T>C (p.Asn469=) rs141725884
NM_000214.3(JAG1):c.147G>T (p.Leu49=)
NM_000214.3(JAG1):c.1482C>T (p.Asn494=) rs2514517217
NM_000214.3(JAG1):c.1489T>C (p.Leu497=)
NM_000214.3(JAG1):c.1494T>C (p.Asn498=)
NM_000214.3(JAG1):c.1512T>C (p.Asn504=)
NM_000214.3(JAG1):c.153C>T (p.Asn51=) rs2067507683
NM_000214.3(JAG1):c.1570C>T (p.Leu524=) rs774864063
NM_000214.3(JAG1):c.177G>A (p.Arg59=)
NM_000214.3(JAG1):c.1827G>C (p.Ser609=) rs779802470
NM_000214.3(JAG1):c.183G>C (p.Pro61=) rs2067507356
NM_000214.3(JAG1):c.186A>G (p.Gly62=)
NM_000214.3(JAG1):c.1881T>C (p.His627=) rs2067313363
NM_000214.3(JAG1):c.1896C>T (p.Asp632=) rs2514514515
NM_000214.3(JAG1):c.18G>A (p.Thr6=) rs576539291
NM_000214.3(JAG1):c.1916G>A (p.Arg639Lys) rs1313242645
NM_000214.3(JAG1):c.192C>A (p.Arg64=) rs369132773
NM_000214.3(JAG1):c.1941T>G (p.Gly647=) rs2514514473
NM_000214.3(JAG1):c.1974C>A (p.Gly658=)
NM_000214.3(JAG1):c.2121T>C (p.Ser707=) rs2514513400
NM_000214.3(JAG1):c.2136C>T (p.Ala712=) rs764453922
NM_000214.3(JAG1):c.2169G>A (p.Glu723=) rs771131682
NM_000214.3(JAG1):c.219A>G (p.Thr73=) rs1216029732
NM_000214.3(JAG1):c.2466T>C (p.Asn822=)
NM_000214.3(JAG1):c.246T>C (p.Tyr82=)
NM_000214.3(JAG1):c.252C>G (p.Ser84=)
NM_000214.3(JAG1):c.255C>T (p.Arg85=) rs371739467
NM_000214.3(JAG1):c.2694C>T (p.Gly898=)
NM_000214.3(JAG1):c.2733C>T (p.Cys911=)
NM_000214.3(JAG1):c.273C>G (p.Pro91=)
NM_000214.3(JAG1):c.2829G>T (p.Pro943=) rs546984480
NM_000214.3(JAG1):c.2859T>C (p.Tyr953=) rs1388481192
NM_000214.3(JAG1):c.28T>C (p.Ser10Pro) rs2122645952
NM_000214.3(JAG1):c.294C>G (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.2985A>G (p.Glu995=)
NM_000214.3(JAG1):c.303C>G (p.Val101=) rs1212837838
NM_000214.3(JAG1):c.3060T>C (p.Asp1020=)
NM_000214.3(JAG1):c.3075G>A (p.Gly1025=)
NM_000214.3(JAG1):c.3123A>G (p.Lys1041=)
NM_000214.3(JAG1):c.3147T>C (p.Ile1049=) rs1003116204
NM_000214.3(JAG1):c.3186G>A (p.Leu1062=)
NM_000214.3(JAG1):c.3198A>G (p.Thr1066=)
NM_000214.3(JAG1):c.3222C>T (p.Ser1074=) rs2514506744
NM_000214.3(JAG1):c.3297G>C (p.Pro1099=) rs748849177
NM_000214.3(JAG1):c.3309A>T (p.Thr1103=) rs1259778353
NM_000214.3(JAG1):c.330G>A (p.Lys110=)
NM_000214.3(JAG1):c.3348G>A (p.Arg1116=) rs1384874556
NM_000214.3(JAG1):c.336C>T (p.Ser112=)
NM_000214.3(JAG1):c.345C>T (p.Asn115=)
NM_000214.3(JAG1):c.348C>A (p.Asp116Glu)
NM_000214.3(JAG1):c.3522G>A (p.Pro1174=) rs1413360004
NM_000214.3(JAG1):c.3531G>T (p.Thr1177=) rs778296544
NM_000214.3(JAG1):c.3600G>A (p.Gln1200=) rs2514506130
NM_000214.3(JAG1):c.3603C>T (p.Asp1201=) rs2514506124
NM_000214.3(JAG1):c.360C>T (p.Ile120=) rs1199774396
NM_000214.3(JAG1):c.3651C>A (p.Ile1217=) rs542831744
NM_000214.3(JAG1):c.40C>T (p.Leu14=) rs1467074978
NM_000214.3(JAG1):c.42A>G (p.Leu14=) rs2514539009
NM_000214.3(JAG1):c.435C>T (p.Thr145=) rs747879633
NM_000214.3(JAG1):c.468T>C (p.Ser156=) rs2122623838
NM_000214.3(JAG1):c.48C>T (p.Leu16=) rs901489977
NM_000214.3(JAG1):c.513G>A (p.Lys171=) rs2067394225
NM_000214.3(JAG1):c.51G>A (p.Leu17=) rs1018632242
NM_000214.3(JAG1):c.549C>A (p.Ile183=)
NM_000214.3(JAG1):c.552C>T (p.Arg184=) rs375199216
NM_000214.3(JAG1):c.558C>T (p.Thr186=) rs776616206
NM_000214.3(JAG1):c.66T>C (p.Cys22=)
NM_000214.3(JAG1):c.696T>G (p.Ala232=)
NM_000214.3(JAG1):c.69C>T (p.Ala23=) rs2514538947
NM_000214.3(JAG1):c.6T>G (p.Arg2=) rs2514539114
NM_000214.3(JAG1):c.744A>T (p.Pro248=) rs10485741
NM_000214.3(JAG1):c.807G>C (p.Pro269=) rs753646278
NM_000214.3(JAG1):c.813C>T (p.Cys271=) rs766245856
NM_000214.3(JAG1):c.84G>A (p.Val28=) rs2514538162

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