ClinVar Miner

List of variants reported as likely pathogenic for Alagille syndrome due to a JAG1 point mutation

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00001
NM_000214.3(JAG1):c.2113+1G>A rs1294950721 0.00001
NM_000214.3(JAG1):c.694+1G>T rs876660979 0.00001
NM_000214.3(JAG1):c.106G>A (p.Glu36Lys) rs2514538137
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000214.3(JAG1):c.11del (p.Pro4fs) rs2067513720
NM_000214.3(JAG1):c.1211G>A (p.Trp404Ter) rs2514519130
NM_000214.3(JAG1):c.1303_1304dup (p.Cys436fs) rs2514518351
NM_000214.3(JAG1):c.1349-173_1483del rs2514517214
NM_000214.3(JAG1):c.1395+3A>G rs886044220
NM_000214.3(JAG1):c.1396-1G>A rs2514517345
NM_000214.3(JAG1):c.1569+1G>A rs2514517119
NM_000214.3(JAG1):c.1569+1G>T
NM_000214.3(JAG1):c.1570-2A>T
NM_000214.3(JAG1):c.1644del (p.Cys549fs) rs2514516628
NM_000214.3(JAG1):c.1657del (p.Glu553fs) rs2514516613
NM_000214.3(JAG1):c.1720+1G>C rs2122607604
NM_000214.3(JAG1):c.1721-178_1721-41delinsTA
NM_000214.3(JAG1):c.1721-2A>T rs2514515739
NM_000214.3(JAG1):c.1754_1755del (p.Asn585fs) rs2514515706
NM_000214.3(JAG1):c.1815_1821delinsAGG (p.Cys605_Ser607delinsTer)
NM_000214.3(JAG1):c.1823_1826del (p.Gln608fs) rs2122606213
NM_000214.3(JAG1):c.190del (p.Arg64fs) rs2514538001
NM_000214.3(JAG1):c.1999+1G>A
NM_000214.3(JAG1):c.2085_2101del (p.Gly696fs) rs2514513565
NM_000214.3(JAG1):c.2114-2A>C rs2514513412
NM_000214.3(JAG1):c.213_214delinsC (p.Asp72fs) rs2514537935
NM_000214.3(JAG1):c.2181dup (p.Lys728Ter) rs2514513311
NM_000214.3(JAG1):c.2210del (p.Gly737fs) rs2514513274
NM_000214.3(JAG1):c.2236_2237del (p.Asn745_Ser746insTer)
NM_000214.3(JAG1):c.2242T>C (p.Cys748Arg) rs2122602509
NM_000214.3(JAG1):c.2278del (p.Val760fs) rs2067297301
NM_000214.3(JAG1):c.235C>T (p.Leu79Phe) rs2514537903
NM_000214.3(JAG1):c.2385del (p.Thr796fs) rs1568793309
NM_000214.3(JAG1):c.2458+2T>G rs2122600427
NM_000214.3(JAG1):c.2459-2A>G rs2514510557
NM_000214.3(JAG1):c.2625del (p.Lys875fs) rs2514509570
NM_000214.3(JAG1):c.2628_2635del (p.Trp876_Asp879delinsTer) rs2122597276
NM_000214.3(JAG1):c.2683-1G>A rs2514509368
NM_000214.3(JAG1):c.2705G>C (p.Cys902Ser) rs876661122
NM_000214.3(JAG1):c.2732G>A (p.Cys911Tyr) rs1555827782
NM_000214.3(JAG1):c.2733C>G (p.Cys911Trp) rs1411780867
NM_000214.3(JAG1):c.2844del (p.Lys947_Cys948insTer)
NM_000214.3(JAG1):c.2898_2899dup (p.Lys967fs)
NM_000214.3(JAG1):c.2914C>G (p.Pro972Ala) rs2067270959
NM_000214.3(JAG1):c.2931del (p.Glu977fs) rs2122595901
NM_000214.3(JAG1):c.2998_3004del (p.Ile1000fs) rs2514508349
NM_000214.3(JAG1):c.3003_3006dup (p.Glu1003fs) rs2514508344
NM_000214.3(JAG1):c.3048+1G>T rs876661121
NM_000214.3(JAG1):c.3048+2T>A rs2514508256
NM_000214.3(JAG1):c.3067del (p.Asp1023fs) rs863223677
NM_000214.3(JAG1):c.387+1G>A rs2514537639
NM_000214.3(JAG1):c.387+1G>C rs2514537639
NM_000214.3(JAG1):c.438_439+2del rs2122632102
NM_000214.3(JAG1):c.463G>C (p.Ala155Pro) rs2514526708
NM_000214.3(JAG1):c.53T>G (p.Leu18Arg) rs2514538986
NM_000214.3(JAG1):c.588C>A (p.Cys196Ter) rs1801138
NM_000214.3(JAG1):c.634T>C (p.Cys212Arg) rs1555829660
NM_000214.3(JAG1):c.647del (p.Gly216fs) rs2514526460
NM_000214.3(JAG1):c.677dup (p.Glu228fs) rs2122623497
NM_000214.3(JAG1):c.695-1G>C rs2514524519
NM_000214.3(JAG1):c.699_700del (p.Ile233fs) rs2514524510
NM_000214.3(JAG1):c.700T>A (p.Cys234Ser) rs1555829415
NM_000214.3(JAG1):c.702C>A (p.Cys234Ter) rs202109974
NM_000214.3(JAG1):c.713G>A (p.Cys238Tyr) rs2122620330
NM_000214.3(JAG1):c.71T>G (p.Leu24Arg)
NM_000214.3(JAG1):c.756-1G>C rs1568798388
NM_000214.3(JAG1):c.789_791del (p.Asp263_Lys264delinsGlu) rs2514521758
NM_000214.3(JAG1):c.806C>T (p.Pro269Leu) rs797044956
NM_000214.3(JAG1):c.82-1G>C rs2067508256
NM_000214.3(JAG1):c.82-2A>G rs1568807161
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser) rs2122615095
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) rs28939668
NM_000214.3(JAG1):c.864G>A (p.Trp288Ter) rs2514521680

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