ClinVar Miner

List of variants in gene JAG1 reported as uncertain significance for Isolated Nonsyndromic Congenital Heart Disease

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.-384T>G rs559044448 0.00399
NM_000214.3(JAG1):c.*1551C>T rs760811504 0.00101
NM_000214.3(JAG1):c.*1637A>G rs886056505 0.00037
NM_000214.3(JAG1):c.*297C>T rs575525743 0.00025
NM_000214.3(JAG1):c.*914G>A rs111277443 0.00016
NM_000214.3(JAG1):c.2979C>T (p.Ser993=) rs542976402 0.00016
NM_000214.3(JAG1):c.*253C>T rs780887274 0.00014
NM_000214.3(JAG1):c.*641C>A rs866626696 0.00013
NM_000214.3(JAG1):c.*1668A>C rs943169809 0.00011
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) rs140330283 0.00006
NM_000214.3(JAG1):c.756-14C>T rs757351921 0.00006
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666 0.00005
NM_000214.3(JAG1):c.*970T>C rs886056510 0.00004
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00004
NM_000214.3(JAG1):c.2590A>G (p.Ile864Val) rs142742183 0.00004
NM_000214.3(JAG1):c.439+9C>T rs374350782 0.00004
NM_000214.3(JAG1):c.3038A>T (p.His1013Leu) rs758687380 0.00003
NM_000214.3(JAG1):c.48C>A (p.Leu16=) rs901489977 0.00003
NM_000214.3(JAG1):c.2199C>T (p.Gly733=) rs756062969 0.00002
NM_000214.3(JAG1):c.2739C>T (p.Ser913=) rs766479402 0.00002
NM_000214.2(JAG1):c.-482G>A rs886056520 0.00001
NM_000214.2(JAG1):c.-507G>A rs747888489 0.00001
NM_000214.3(JAG1):c.*1224G>A rs886056506 0.00001
NM_000214.3(JAG1):c.*1612G>A rs998342074 0.00001
NM_000214.3(JAG1):c.*18C>T rs1160652210 0.00001
NM_000214.3(JAG1):c.*521T>C rs755826715 0.00001
NM_000214.3(JAG1):c.*881C>T rs1191747708 0.00001
NM_000214.3(JAG1):c.-129C>T rs886056516 0.00001
NM_000214.3(JAG1):c.1377G>C (p.Gln459His) rs762746994 0.00001
NM_000214.3(JAG1):c.1659G>T (p.Glu553Asp) rs1337206941 0.00001
NM_000214.3(JAG1):c.1721-15A>G rs753524030 0.00001
NM_000214.3(JAG1):c.2000-14C>G rs777011001 0.00001
NM_000214.3(JAG1):c.2360G>A (p.Ser787Asn) rs761640153 0.00001
NM_000214.3(JAG1):c.2817C>T (p.Ser939=) rs1180418350 0.00001
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val) rs773974344 0.00001
NM_000214.3(JAG1):c.303C>T (p.Val101=) rs1212837838 0.00001
NM_000214.3(JAG1):c.3179G>A (p.Arg1060Gln) rs773538545 0.00001
NM_000214.3(JAG1):c.3297G>A (p.Pro1099=) rs748849177 0.00001
NM_000214.3(JAG1):c.3385C>A (p.His1129Asn) rs768642155 0.00001
NM_000214.3(JAG1):c.74G>A (p.Arg25Gln) rs1265642949 0.00001
NM_000214.2(JAG1):c.-483C>T rs867504722
NM_000214.3(JAG1):c.*1093_*1097del rs886056509
NM_000214.3(JAG1):c.*1133_*1136del rs886056508
NM_000214.3(JAG1):c.*1212_*1214del rs886056507
NM_000214.3(JAG1):c.*1440A>G rs2067244785
NM_000214.3(JAG1):c.*1531TG[1] rs765273169
NM_000214.3(JAG1):c.*378T>G rs886056512
NM_000214.3(JAG1):c.*398T>C rs562655817
NM_000214.3(JAG1):c.*401C>T rs886056511
NM_000214.3(JAG1):c.*587T>C rs2067250788
NM_000214.3(JAG1):c.*644AAT[1] rs572952606
NM_000214.3(JAG1):c.*959GTTT[2] rs748163677
NM_000214.3(JAG1):c.-105C>G rs886056515
NM_000214.3(JAG1):c.-185G>C rs1398348355
NM_000214.3(JAG1):c.-27C>G rs886056513
NM_000214.3(JAG1):c.-364T>G rs886056517
NM_000214.3(JAG1):c.-375dup rs201660680
NM_000214.3(JAG1):c.-386dup rs886056519
NM_000214.3(JAG1):c.-465G>T rs943315478
NM_000214.3(JAG1):c.-6G>T rs2067513848
NM_000214.3(JAG1):c.-73G>C rs886056514
NM_000214.3(JAG1):c.-75A>G rs1208905634
NM_000214.3(JAG1):c.1013A>G (p.His338Arg) rs2067347480
NM_000214.3(JAG1):c.1023C>T (p.Leu341=) rs1297627471
NM_000214.3(JAG1):c.2665C>T (p.Arg889Trp) rs765431150
NM_000214.3(JAG1):c.294C>G (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3007G>C (p.Glu1003Gln) rs781509375
NM_000214.3(JAG1):c.331G>A (p.Ala111Thr) rs763966262

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