ClinVar Miner

List of variants in gene JAG1 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 162
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028 0.00041
NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr) rs574205422 0.00015
NM_000214.3(JAG1):c.1706C>T (p.Thr569Met) rs368438076 0.00012
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) rs563232654 0.00011
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) rs149419694 0.00011
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951 0.00011
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp) rs377723772 0.00011
NM_000214.3(JAG1):c.1115C>T (p.Ser372Phe) rs772669312 0.00010
NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp) rs760470297 0.00009
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu) rs767826365 0.00007
NM_000214.3(JAG1):c.3154G>A (p.Val1052Ile) rs375200637 0.00007
NM_000214.3(JAG1):c.3260C>T (p.Thr1087Met) rs763164530 0.00007
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile) rs150295026 0.00007
NM_000214.3(JAG1):c.1015G>T (p.Ala339Ser) rs751516838 0.00006
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) rs140330283 0.00006
NM_000214.3(JAG1):c.248A>G (p.Gln83Arg) rs376092818 0.00006
NM_000214.3(JAG1):c.2527C>T (p.Arg843Trp) rs201608372 0.00006
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala) rs909905245 0.00006
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907 0.00006
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp) rs397515876 0.00006
NM_000214.3(JAG1):c.1195G>A (p.Val399Met) rs181970528 0.00005
NM_000214.3(JAG1):c.2287G>A (p.Gly763Ser) rs746939887 0.00005
NM_000214.3(JAG1):c.2927C>T (p.Thr976Met) rs751809412 0.00005
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993 0.00004
NM_000214.3(JAG1):c.1609G>A (p.Gly537Ser) rs756787187 0.00004
NM_000214.3(JAG1):c.1756G>A (p.Asp586Asn) rs762348061 0.00004
NM_000214.3(JAG1):c.1865C>T (p.Thr622Met) rs764089304 0.00004
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val) rs142742183 0.00004
NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr) rs372904306 0.00004
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser) rs760332763 0.00004
NM_000214.3(JAG1):c.1321G>A (p.Gly441Ser) rs1327002160 0.00002
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg) rs750855317 0.00002
NM_000214.3(JAG1):c.2042C>T (p.Thr681Met) rs772675011 0.00002
NM_000214.3(JAG1):c.2087G>A (p.Gly696Glu) rs780243244 0.00002
NM_000214.3(JAG1):c.2498C>T (p.Ala833Val) rs141292792 0.00002
NM_000214.3(JAG1):c.34C>T (p.Arg12Cys) rs1452242699 0.00002
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys) rs758788135 0.00002
NM_000214.3(JAG1):c.1057G>C (p.Glu353Gln) rs1600185499 0.00001
NM_000214.3(JAG1):c.1117A>G (p.Thr373Ala) rs1212026437 0.00001
NM_000214.3(JAG1):c.1444G>A (p.Asp482Asn) rs766370717 0.00001
NM_000214.3(JAG1):c.1475C>T (p.Ala492Val) rs200250528 0.00001
NM_000214.3(JAG1):c.1659G>T (p.Glu553Asp) rs1337206941 0.00001
NM_000214.3(JAG1):c.1702C>T (p.Arg568Cys) rs748384232 0.00001
NM_000214.3(JAG1):c.203G>C (p.Arg68Pro) rs892275570 0.00001
NM_000214.3(JAG1):c.2234A>C (p.Asn745Thr) rs1314917198 0.00001
NM_000214.3(JAG1):c.2305G>A (p.Val769Ile) rs754301929 0.00001
NM_000214.3(JAG1):c.2379C>A (p.Asn793Lys) rs1418864237 0.00001
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu) rs1308346607 0.00001
NM_000214.3(JAG1):c.2414G>A (p.Arg805Gln) rs774372899 0.00001
NM_000214.3(JAG1):c.2528G>A (p.Arg843Gln) rs751448440 0.00001
NM_000214.3(JAG1):c.2671G>A (p.Ala891Thr) rs1454234098 0.00001
NM_000214.3(JAG1):c.2767G>A (p.Asp923Asn) rs775240101 0.00001
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile) rs770415804 0.00001
NM_000214.3(JAG1):c.2876C>T (p.Ala959Val) rs747802983 0.00001
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val) rs773974344 0.00001
NM_000214.3(JAG1):c.3083T>G (p.Ile1028Ser) rs761187116 0.00001
NM_000214.3(JAG1):c.3179G>A (p.Arg1060Gln) rs773538545 0.00001
NM_000214.3(JAG1):c.3286C>T (p.Arg1096Trp) rs537986153 0.00001
NM_000214.3(JAG1):c.3290G>A (p.Arg1097Gln) rs1462490364 0.00001
NM_000214.3(JAG1):c.3347G>A (p.Arg1116Gln) rs908755268 0.00001
NM_000214.3(JAG1):c.3452C>A (p.Thr1151Lys) rs1362853052 0.00001
NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln) rs1268561604 0.00001
NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val) rs918046091 0.00001
NM_000214.3(JAG1):c.448A>G (p.Ser150Gly) rs1229047867 0.00001
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser) rs768317581 0.00001
NM_000214.3(JAG1):c.1022T>C (p.Leu341Pro)
NM_000214.3(JAG1):c.1181A>G (p.Asn394Ser)
NM_000214.3(JAG1):c.1238C>T (p.Ala413Val)
NM_000214.3(JAG1):c.1274A>G (p.Lys425Arg)
NM_000214.3(JAG1):c.1283A>G (p.Lys428Arg)
NM_000214.3(JAG1):c.1330G>A (p.Gly444Ser)
NM_000214.3(JAG1):c.1330G>C (p.Gly444Arg)
NM_000214.3(JAG1):c.1352T>A (p.Ile451Asn) rs1178459436
NM_000214.3(JAG1):c.1372T>C (p.Cys458Arg)
NM_000214.3(JAG1):c.1388C>T (p.Ser463Phe)
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp) rs937263997
NM_000214.3(JAG1):c.1414C>T (p.Arg472Cys)
NM_000214.3(JAG1):c.142G>A (p.Glu48Lys)
NM_000214.3(JAG1):c.1438G>T (p.Ala480Ser)
NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn) rs370107709
NM_000214.3(JAG1):c.1591C>A (p.Pro531Thr)
NM_000214.3(JAG1):c.1654C>G (p.Pro552Ala)
NM_000214.3(JAG1):c.1664A>G (p.Tyr555Cys)
NM_000214.3(JAG1):c.1706C>G (p.Thr569Arg)
NM_000214.3(JAG1):c.1712C>A (p.Pro571His)
NM_000214.3(JAG1):c.182C>T (p.Pro61Leu)
NM_000214.3(JAG1):c.190C>T (p.Arg64Cys)
NM_000214.3(JAG1):c.1915A>G (p.Arg639Gly)
NM_000214.3(JAG1):c.1936G>A (p.Asp646Asn)
NM_000214.3(JAG1):c.2005A>G (p.Asn669Asp)
NM_000214.3(JAG1):c.202C>T (p.Arg68Cys)
NM_000214.3(JAG1):c.2065T>C (p.Phe689Leu)
NM_000214.3(JAG1):c.2132A>T (p.Glu711Val)
NM_000214.3(JAG1):c.2290G>A (p.Glu764Lys)
NM_000214.3(JAG1):c.2300C>A (p.Thr767Lys)
NM_000214.3(JAG1):c.2446G>A (p.Asp816Asn)
NM_000214.3(JAG1):c.2489C>T (p.Ala830Val)
NM_000214.3(JAG1):c.2510A>T (p.Asp837Val)
NM_000214.3(JAG1):c.2511T>G (p.Asp837Glu)
NM_000214.3(JAG1):c.2515A>T (p.Ile839Phe)
NM_000214.3(JAG1):c.2557G>A (p.Ala853Thr)
NM_000214.3(JAG1):c.2632G>A (p.Asp878Asn) rs750102792
NM_000214.3(JAG1):c.2652G>T (p.Gln884His)
NM_000214.3(JAG1):c.2665C>G (p.Arg889Gly)
NM_000214.3(JAG1):c.2665C>T (p.Arg889Trp) rs765431150
NM_000214.3(JAG1):c.2752A>G (p.Ile918Val) rs773431867
NM_000214.3(JAG1):c.2765A>G (p.Asp922Gly)
NM_000214.3(JAG1):c.2809C>T (p.Arg937Trp) rs779410593
NM_000214.3(JAG1):c.2858A>G (p.Tyr953Cys)
NM_000214.3(JAG1):c.2926A>G (p.Thr976Ala)
NM_000214.3(JAG1):c.2959A>T (p.Asn987Tyr)
NM_000214.3(JAG1):c.2962A>G (p.Ile988Val)
NM_000214.3(JAG1):c.2978C>T (p.Ser993Phe)
NM_000214.3(JAG1):c.3007G>C (p.Glu1003Gln) rs781509375
NM_000214.3(JAG1):c.3061A>C (p.Ile1021Leu)
NM_000214.3(JAG1):c.3083T>C (p.Ile1028Thr)
NM_000214.3(JAG1):c.3097G>A (p.Asp1033Asn)
NM_000214.3(JAG1):c.3112C>A (p.Leu1038Ile)
NM_000214.3(JAG1):c.3112C>G (p.Leu1038Val)
NM_000214.3(JAG1):c.3124C>T (p.Arg1042Cys)
NM_000214.3(JAG1):c.3169G>A (p.Val1057Ile)
NM_000214.3(JAG1):c.3169G>C (p.Val1057Leu)
NM_000214.3(JAG1):c.3178C>T (p.Arg1060Trp)
NM_000214.3(JAG1):c.3209T>C (p.Val1070Ala)
NM_000214.3(JAG1):c.3226G>A (p.Val1076Ile)
NM_000214.3(JAG1):c.3265T>C (p.Phe1089Leu)
NM_000214.3(JAG1):c.3284A>G (p.Lys1095Arg)
NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn)
NM_000214.3(JAG1):c.3325G>A (p.Asp1109Asn)
NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser) rs150811951
NM_000214.3(JAG1):c.335G>A (p.Ser112Asn)
NM_000214.3(JAG1):c.3431C>G (p.Ser1144Cys)
NM_000214.3(JAG1):c.3503C>G (p.Ala1168Gly)
NM_000214.3(JAG1):c.3510T>G (p.Phe1170Leu)
NM_000214.3(JAG1):c.3538G>A (p.Asp1180Asn)
NM_000214.3(JAG1):c.3545A>T (p.Glu1182Val)
NM_000214.3(JAG1):c.3569C>T (p.Pro1190Leu)
NM_000214.3(JAG1):c.3579C>G (p.His1193Gln)
NM_000214.3(JAG1):c.3581C>T (p.Pro1194Leu)
NM_000214.3(JAG1):c.3617A>T (p.Glu1206Val)
NM_000214.3(JAG1):c.3644A>C (p.Glu1215Ala)
NM_000214.3(JAG1):c.3653T>A (p.Val1218Glu)
NM_000214.3(JAG1):c.38C>A (p.Pro13His)
NM_000214.3(JAG1):c.406G>T (p.Val136Leu)
NM_000214.3(JAG1):c.428A>T (p.Asn143Ile)
NM_000214.3(JAG1):c.506C>T (p.Thr169Met)
NM_000214.3(JAG1):c.524G>T (p.Gly175Val) rs2122623743
NM_000214.3(JAG1):c.566A>G (p.Asp189Gly)
NM_000214.3(JAG1):c.59T>C (p.Leu20Pro) rs1568807442
NM_000214.3(JAG1):c.5G>A (p.Arg2His)
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro) rs876660977
NM_000214.3(JAG1):c.635G>C (p.Cys212Ser)
NM_000214.3(JAG1):c.651C>A (p.Asn217Lys)
NM_000214.3(JAG1):c.704G>A (p.Arg235Gln) rs1245693208
NM_000214.3(JAG1):c.709G>A (p.Gly237Ser)
NM_000214.3(JAG1):c.719C>T (p.Pro240Leu)
NM_000214.3(JAG1):c.775G>A (p.Gly259Ser)
NM_000214.3(JAG1):c.77C>T (p.Ala26Val)
NM_000214.3(JAG1):c.806C>T (p.Pro269Leu) rs797044956
NM_000214.3(JAG1):c.878G>A (p.Cys293Tyr) rs1568798248
NM_000214.3(JAG1):c.89G>A (p.Gly30Glu)
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg) rs750195672

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