ClinVar Miner

List of variants studied for Alagille syndrome due to a NOTCH2 point mutation

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.1108+30A>G rs2493409 0.97622
NM_024408.4(NOTCH2):c.2753-44C>T rs2493420 0.22074
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=) rs34561092 0.00733
NM_024408.4(NOTCH2):c.1567+12C>T rs78223268 0.00306
NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=) rs61734328 0.00241
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_024408.4(NOTCH2):c.7G>T (p.Ala3Ser) rs782113557 0.00218
NM_024408.4(NOTCH2):c.1568-17C>T rs373665797 0.00198
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_024408.4(NOTCH2):c.1108+14G>A rs377649578 0.00098
NM_024408.4(NOTCH2):c.2752+17G>C rs370708756 0.00066
NM_024408.4(NOTCH2):c.2981+11A>G rs148899572 0.00063
NM_024408.4(NOTCH2):c.7140G>C (p.Val2380=) rs150785478 0.00051
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=) rs150657714 0.00029
NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro) rs143506822 0.00021
NM_024408.4(NOTCH2):c.6486C>T (p.Ser2162=) rs372865598 0.00018
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987 0.00017
NM_024408.4(NOTCH2):c.2480-4C>G rs201770901 0.00016
NM_024408.4(NOTCH2):c.6893G>A (p.Arg2298Gln) rs140832430 0.00016
NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp) rs587778575 0.00011
NM_024408.4(NOTCH2):c.3916G>A (p.Asp1306Asn) rs116408209 0.00010
NM_024408.4(NOTCH2):c.3995G>A (p.Arg1332His) rs587609362 0.00010
NM_024408.4(NOTCH2):c.1681+9C>A rs192886452 0.00009
NM_024408.4(NOTCH2):c.2785G>A (p.Gly929Arg) rs199585130 0.00009
NM_024408.4(NOTCH2):c.3878G>A (p.Arg1293His) rs201968231 0.00009
NM_024408.4(NOTCH2):c.7190C>G (p.Ala2397Gly) rs143197714 0.00009
NM_024408.4(NOTCH2):c.3912C>T (p.Phe1304=) rs764301517 0.00007
NM_024408.4(NOTCH2):c.4922A>C (p.Lys1641Thr) rs148354054 0.00007
NM_024408.4(NOTCH2):c.1803C>T (p.Gly601=) rs377566312 0.00006
NM_024408.4(NOTCH2):c.3305A>G (p.Asn1102Ser) rs781872271 0.00006
NM_024408.4(NOTCH2):c.3462G>A (p.Ala1154=) rs146593279 0.00006
NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg) rs373035180 0.00006
NM_024408.4(NOTCH2):c.4229G>A (p.Arg1410His) rs202022988 0.00006
NM_024408.4(NOTCH2):c.881T>A (p.Phe294Tyr) rs369664394 0.00006
NM_024408.4(NOTCH2):c.6338C>T (p.Pro2113Leu) rs767621140 0.00005
NM_024408.4(NOTCH2):c.6868G>A (p.Glu2290Lys) rs141878560 0.00005
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala) rs587778578 0.00005
NM_024408.4(NOTCH2):c.1109-12A>C rs782601589 0.00004
NM_024408.4(NOTCH2):c.1158G>A (p.Lys386=) rs781863099 0.00004
NM_024408.4(NOTCH2):c.2647A>G (p.Met883Val) rs145079718 0.00004
NM_024408.4(NOTCH2):c.5217T>C (p.Asn1739=) rs768669808 0.00004
NM_024408.4(NOTCH2):c.5398C>T (p.Arg1800Cys) rs1450649026 0.00004
NM_024408.4(NOTCH2):c.5423C>T (p.Thr1808Ile) rs144085962 0.00004
NM_024408.4(NOTCH2):c.5624G>A (p.Arg1875Gln) rs148613210 0.00004
NM_024408.4(NOTCH2):c.5977A>G (p.Thr1993Ala) rs779769077 0.00004
NM_024408.4(NOTCH2):c.6056G>A (p.Arg2019Gln) rs201446896 0.00004
NM_024408.4(NOTCH2):c.6313C>T (p.Arg2105Trp) rs372538600 0.00004
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His) rs148759277 0.00004
NM_024408.4(NOTCH2):c.7040G>A (p.Arg2347His) rs201993620 0.00004
NM_024408.4(NOTCH2):c.875-9C>G rs1324363153 0.00004
NM_024408.4(NOTCH2):c.2642C>T (p.Pro881Leu) rs782728045 0.00003
NM_024408.4(NOTCH2):c.3430A>G (p.Ser1144Gly) rs143866883 0.00003
NM_024408.4(NOTCH2):c.3467A>G (p.Asn1156Ser) rs782760871 0.00003
NM_024408.4(NOTCH2):c.3556T>A (p.Tyr1186Asn) rs377058108 0.00003
NM_024408.4(NOTCH2):c.4270A>G (p.Thr1424Ala) rs760325217 0.00003
NM_024408.4(NOTCH2):c.5214-12T>C rs770224035 0.00003
NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His) rs201996575 0.00003
NM_024408.4(NOTCH2):c.6547A>G (p.Met2183Val) rs748538625 0.00003
NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=) rs760004891 0.00003
NM_024408.4(NOTCH2):c.7342G>T (p.Ala2448Ser) rs764210725 0.00003
NM_024408.4(NOTCH2):c.7377G>A (p.Met2459Ile) rs139658777 0.00003
NM_024408.4(NOTCH2):c.2501T>G (p.Leu834Trp) rs376526633 0.00002
NM_024408.4(NOTCH2):c.3046G>A (p.Gly1016Ser) rs782191722 0.00002
NM_024408.4(NOTCH2):c.3298G>A (p.Val1100Met) rs782536553 0.00002
NM_024408.4(NOTCH2):c.4998C>T (p.Val1666=) rs765967094 0.00002
NM_024408.4(NOTCH2):c.5156G>A (p.Arg1719Gln) rs587737953 0.00002
NM_024408.4(NOTCH2):c.6004A>G (p.Asn2002Asp) rs761367735 0.00002
NM_024408.4(NOTCH2):c.6008G>A (p.Arg2003Gln) rs142978073 0.00002
NM_024408.4(NOTCH2):c.6178C>T (p.Arg2060Cys) rs746551843 0.00002
NM_024408.4(NOTCH2):c.6481G>A (p.Val2161Ile) rs1470762283 0.00002
NM_024408.4(NOTCH2):c.6878A>C (p.His2293Pro) rs780904023 0.00002
NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter) rs1174406807 0.00002
NM_024408.4(NOTCH2):c.1032C>T (p.Phe344=) rs782702694 0.00001
NM_024408.4(NOTCH2):c.1248G>A (p.Val416=) rs374135765 0.00001
NM_024408.4(NOTCH2):c.1978A>G (p.Met660Val) rs1447605154 0.00001
NM_024408.4(NOTCH2):c.2026+6G>T rs587731563 0.00001
NM_024408.4(NOTCH2):c.2142C>G (p.His714Gln) rs1553198250 0.00001
NM_024408.4(NOTCH2):c.2295A>G (p.Pro765=) rs139358772 0.00001
NM_024408.4(NOTCH2):c.2381T>C (p.Val794Ala) rs782132637 0.00001
NM_024408.4(NOTCH2):c.2440A>G (p.Ile814Val) rs782757612 0.00001
NM_024408.4(NOTCH2):c.2948A>G (p.His983Arg) rs1403687128 0.00001
NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser) rs782078365 0.00001
NM_024408.4(NOTCH2):c.3406C>G (p.Gln1136Glu) rs1553195867 0.00001
NM_024408.4(NOTCH2):c.3700C>T (p.His1234Tyr) rs797044475 0.00001
NM_024408.4(NOTCH2):c.3701A>G (p.His1234Arg) rs782254462 0.00001
NM_024408.4(NOTCH2):c.3908C>G (p.Thr1303Ser) rs1359085444 0.00001
NM_024408.4(NOTCH2):c.4733G>A (p.Arg1578His) rs751299682 0.00001
NM_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu) rs1570660422 0.00001
NM_024408.4(NOTCH2):c.5732G>A (p.Arg1911His) rs1216790064 0.00001
NM_024408.4(NOTCH2):c.6052G>T (p.Ala2018Ser) rs886044278 0.00001
NM_024408.4(NOTCH2):c.6079A>G (p.Lys2027Glu) rs1283460236 0.00001
NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=) rs587733506 0.00001
NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr) rs139052054 0.00001
NM_024408.4(NOTCH2):c.686C>A (p.Pro229His) rs781850215 0.00001
NM_024408.4(NOTCH2):c.6904C>G (p.Pro2302Ala) rs764669567 0.00001
NM_024408.4(NOTCH2):c.6911T>C (p.Ile2304Thr) rs1370844431 0.00001
NM_024408.4(NOTCH2):c.7016T>C (p.Met2339Thr) rs766624616 0.00001
NM_024408.4(NOTCH2):c.760G>T (p.Gly254Trp) rs1553202314 0.00001
NM_024408.4(NOTCH2):c.822T>G (p.Val274=) rs782642000 0.00001
NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr) rs111033632
NM_024408.4(NOTCH2):c.1492T>C (p.Cys498Arg)
NM_024408.4(NOTCH2):c.15C>T (p.Arg5=) rs4021006
NM_024408.4(NOTCH2):c.19G>T (p.Ala7Ser)
NM_024408.4(NOTCH2):c.2239G>A (p.Ala747Thr) rs782424159
NM_024408.4(NOTCH2):c.2365G>A (p.Gly789Ser) rs2101122120
NM_024408.4(NOTCH2):c.2584G>T (p.Ala862Ser) rs782798700
NM_024408.4(NOTCH2):c.2587C>T (p.Pro863Ser) rs1650362306
NM_024408.4(NOTCH2):c.2677G>A (p.Gly893Ser) rs782108690
NM_024408.4(NOTCH2):c.2699C>T (p.Pro900Leu) rs2101114444
NM_024408.4(NOTCH2):c.2896G>C (p.Asp966His)
NM_024408.4(NOTCH2):c.3154C>A (p.Pro1052Thr) rs1417119248
NM_024408.4(NOTCH2):c.3301C>T (p.Pro1101Ser)
NM_024408.4(NOTCH2):c.3302C>T (p.Pro1101Leu)
NM_024408.4(NOTCH2):c.3523-15_3523-13del rs782523879
NM_024408.4(NOTCH2):c.3661C>A (p.Leu1221Ile)
NM_024408.4(NOTCH2):c.3670G>A (p.Glu1224Lys) rs886044885
NM_024408.4(NOTCH2):c.4019C>T (p.Ala1340Val) rs1649454489
NM_024408.4(NOTCH2):c.4394A>G (p.Asn1465Ser) rs886044112
NM_024408.4(NOTCH2):c.4593dup (p.Leu1532fs)
NM_024408.4(NOTCH2):c.4647T>G (p.Ile1549Met) rs1396873392
NM_024408.4(NOTCH2):c.4665T>C (p.Pro1555=) rs587722015
NM_024408.4(NOTCH2):c.4692C>G (p.Ser1564Arg) rs774541297
NM_024408.4(NOTCH2):c.4747T>C (p.Ser1583Pro)
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.4(NOTCH2):c.5031G>T (p.Gln1677His) rs1345166838
NM_024408.4(NOTCH2):c.5132T>C (p.Leu1711Pro) rs1570660922
NM_024408.4(NOTCH2):c.5327T>C (p.Leu1776Ser) rs1649240420
NM_024408.4(NOTCH2):c.5431C>T (p.Gln1811Ter) rs1557804111
NM_024408.4(NOTCH2):c.5540AAGATG[1] (p.1847ED[1]) rs764518778
NM_024408.4(NOTCH2):c.5644C>T (p.His1882Tyr) rs1570658378
NM_024408.4(NOTCH2):c.5930-1G>A rs312262798
NM_024408.4(NOTCH2):c.5930-2A>G
NM_024408.4(NOTCH2):c.6028-5T>A
NM_024408.4(NOTCH2):c.6055C>G (p.Arg2019Gly) rs1430961661
NM_024408.4(NOTCH2):c.6118G>A (p.Asp2040Asn) rs748876258
NM_024408.4(NOTCH2):c.6125T>C (p.Met2042Thr) rs1649084282
NM_024408.4(NOTCH2):c.6139del (p.Arg2047fs)
NM_024408.4(NOTCH2):c.6325A>G (p.Lys2109Glu) rs1649072477
NM_024408.4(NOTCH2):c.6460del (p.Ser2153_Leu2154insTer) rs1570655570
NM_024408.4(NOTCH2):c.6586C>T (p.Gln2196Ter) rs2101143618
NM_024408.4(NOTCH2):c.6618A>C (p.Glu2206Asp) rs2101143543
NM_024408.4(NOTCH2):c.7072A>G (p.Met2358Val) rs763117840
NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala) rs1464974590
NM_024408.4(NOTCH2):c.7326C>T (p.Ser2442=) rs2101141240
NM_024408.4(NOTCH2):c.815G>A (p.Gly272Glu) rs1557834076
NM_024408.4(NOTCH2):c.836T>G (p.Val279Gly) rs1557834060
NM_024408.4(NOTCH2):c.853C>T (p.Arg285Cys) rs142614610
NM_024408.4(NOTCH2):c.8C>T (p.Ala3Val) rs200646249

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