ClinVar Miner

List of variants in gene JAG1 reported as uncertain significance by GeneDx

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305 0.00031
NM_000214.3(JAG1):c.3281G>A (p.Arg1094Gln) rs139629694 0.00015
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) rs143966918 0.00014
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.3521C>T (p.Pro1174Leu) rs775363555 0.00005
NM_000214.3(JAG1):c.521C>T (p.Thr174Met) rs144999773 0.00005
NM_000214.3(JAG1):c.1609G>A (p.Gly537Ser) rs756787187 0.00004
NM_000214.3(JAG1):c.2312A>G (p.Lys771Arg) rs149949294 0.00004
NM_000214.3(JAG1):c.2113C>T (p.Arg705Cys) rs1436816052 0.00002
NM_000214.3(JAG1):c.2498C>T (p.Ala833Val) rs141292792 0.00002
NM_000214.3(JAG1):c.1444G>A (p.Asp482Asn) rs766370717 0.00001
NM_000214.3(JAG1):c.1627C>T (p.Arg543Cys) rs375017114 0.00001
NM_000214.3(JAG1):c.2114G>A (p.Arg705His) rs1320720578 0.00001
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968 0.00001
NM_000214.3(JAG1):c.3287G>A (p.Arg1096Gln) rs2067258057 0.00001
NM_000214.3(JAG1):c.3530C>T (p.Thr1177Met) rs533237399 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.1000G>A (p.Glu334Lys)
NM_000214.3(JAG1):c.1056G>C (p.Lys352Asn)
NM_000214.3(JAG1):c.1138_1140del (p.Pro380del)
NM_000214.3(JAG1):c.1264G>A (p.Val422Ile)
NM_000214.3(JAG1):c.1352T>A (p.Ile451Asn) rs1178459436
NM_000214.3(JAG1):c.1375C>A (p.Gln459Lys) rs1289016419
NM_000214.3(JAG1):c.1755C>G (p.Asn585Lys) rs142808131
NM_000214.3(JAG1):c.2264A>G (p.Asn755Ser) rs2122602452
NM_000214.3(JAG1):c.2268_2270del (p.Gly757del)
NM_000214.3(JAG1):c.2372+3_2372+6del rs2067293629
NM_000214.3(JAG1):c.23G>A (p.Gly8Asp) rs993238320
NM_000214.3(JAG1):c.262G>A (p.Ala88Thr)
NM_000214.3(JAG1):c.2705G>C (p.Cys902Ser) rs876661122
NM_000214.3(JAG1):c.2750G>C (p.Cys917Ser)
NM_000214.3(JAG1):c.2939G>C (p.Cys980Ser) rs2122595886
NM_000214.3(JAG1):c.3097G>C (p.Asp1033His) rs772228887
NM_000214.3(JAG1):c.3308del (p.Thr1103fs) rs869312854
NM_000214.3(JAG1):c.3517C>A (p.Gln1173Lys) rs1555827480
NM_000214.3(JAG1):c.3538G>A (p.Asp1180Asn)
NM_000214.3(JAG1):c.3557C>T (p.Pro1186Leu)
NM_000214.3(JAG1):c.3637C>T (p.Arg1213Ter) rs769276255
NM_000214.3(JAG1):c.3648C>A (p.Tyr1216Ter)
NM_000214.3(JAG1):c.391T>C (p.Ser131Pro)
NM_000214.3(JAG1):c.546G>C (p.Gln182His) rs2122623700
NM_000214.3(JAG1):c.56C>T (p.Ala19Val) rs886043988
NM_000214.3(JAG1):c.571T>C (p.Tyr191His)
NM_000214.3(JAG1):c.611A>G (p.Asp204Gly) rs2122623598
NM_000214.3(JAG1):c.626A>G (p.His209Arg) rs863223679
NM_000214.3(JAG1):c.776G>A (p.Gly259Asp)
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser) rs2122615095
NM_000214.3(JAG1):c.998G>A (p.Cys333Tyr) rs2122614331

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