ClinVar Miner

List of variants in gene NOTCH3 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 481
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093 0.00784
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp) rs115872852 0.00036
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val) rs368146879 0.00026
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His) rs144935367 0.00024
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys) rs375873637 0.00020
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650 0.00019
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu) rs371738874 0.00014
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His) rs372241697 0.00013
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser) rs764148985 0.00011
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166 0.00011
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935 0.00011
NM_000435.3(NOTCH3):c.3758A>C (p.Gln1253Pro) rs749611934 0.00010
NM_000435.3(NOTCH3):c.3421G>A (p.Val1141Met) rs373181668 0.00009
NM_000435.3(NOTCH3):c.5900T>C (p.Met1967Thr) rs377589088 0.00009
NM_000435.3(NOTCH3):c.6239G>A (p.Arg2080Gln) rs759896413 0.00009
NM_000435.3(NOTCH3):c.1500C>T (p.Ser500=) rs146055867 0.00008
NM_000435.3(NOTCH3):c.3227G>A (p.Arg1076His) rs771803651 0.00008
NM_000435.3(NOTCH3):c.3785G>T (p.Arg1262Leu) rs143684274 0.00008
NM_000435.3(NOTCH3):c.1469G>C (p.Gly490Ala) rs374248747 0.00007
NM_000435.3(NOTCH3):c.1505C>T (p.Ser502Phe) rs778571943 0.00007
NM_000435.3(NOTCH3):c.269G>A (p.Arg90His) rs754726425 0.00007
NM_000435.3(NOTCH3):c.4404C>T (p.Asn1468=) rs145425679 0.00007
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp) rs557113034 0.00007
NM_000435.3(NOTCH3):c.1416G>T (p.Glu472Asp) rs1416152273 0.00006
NM_000435.3(NOTCH3):c.2000G>A (p.Gly667Asp) rs370386680 0.00006
NM_000435.3(NOTCH3):c.2358C>T (p.Cys786=) rs754220821 0.00006
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu) rs778715118 0.00006
NM_000435.3(NOTCH3):c.472G>A (p.Asp158Asn) rs544773641 0.00006
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp) rs367707092 0.00006
NM_000435.3(NOTCH3):c.5010G>A (p.Glu1670=) rs937296497 0.00006
NM_000435.3(NOTCH3):c.5467G>A (p.Asp1823Asn) rs763602970 0.00006
NM_000435.3(NOTCH3):c.6164C>T (p.Ala2055Val) rs769066713 0.00006
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp) rs753170185 0.00006
NM_000435.3(NOTCH3):c.754G>A (p.Val252Met) rs115836330 0.00006
NM_000435.3(NOTCH3):c.1631G>A (p.Arg544His) rs751284168 0.00005
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=) rs200881673 0.00005
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165 0.00005
NM_000435.3(NOTCH3):c.5739G>A (p.Ala1913=) rs776548752 0.00005
NM_000435.3(NOTCH3):c.6521G>A (p.Arg2174Gln) rs1337328035 0.00005
NM_000435.3(NOTCH3):c.743G>C (p.Gly248Ala) rs141402160 0.00005
NM_000435.3(NOTCH3):c.1277C>T (p.Pro426Leu) rs756516988 0.00004
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met) rs200160665 0.00004
NM_000435.3(NOTCH3):c.1724C>T (p.Thr575Met) rs371176740 0.00004
NM_000435.3(NOTCH3):c.1873G>A (p.Ala625Thr) rs747633377 0.00004
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_000435.3(NOTCH3):c.3210C>T (p.Cys1070=) rs202041210 0.00004
NM_000435.3(NOTCH3):c.3475A>G (p.Ile1159Val) rs1044143019 0.00004
NM_000435.3(NOTCH3):c.3566T>C (p.Phe1189Ser) rs764617561 0.00004
NM_000435.3(NOTCH3):c.3806G>T (p.Gly1269Val) rs781401262 0.00004
NM_000435.3(NOTCH3):c.488G>A (p.Arg163Gln) rs761209241 0.00004
NM_000435.3(NOTCH3):c.5551C>T (p.Arg1851Cys) rs376590511 0.00004
NM_000435.3(NOTCH3):c.6092G>A (p.Arg2031His) rs779314594 0.00004
NM_000435.3(NOTCH3):c.6267G>A (p.Pro2089=) rs577303432 0.00004
NM_000435.3(NOTCH3):c.6437C>T (p.Ala2146Val) rs770739669 0.00004
NM_000435.3(NOTCH3):c.715G>A (p.Asp239Asn) rs761407832 0.00004
NM_000435.3(NOTCH3):c.983C>T (p.Thr328Ile) rs769567750 0.00004
NM_000435.3(NOTCH3):c.143C>T (p.Pro48Leu) rs1362111590 0.00003
NM_000435.3(NOTCH3):c.2455C>G (p.Pro819Ala) rs1301248585 0.00003
NM_000435.3(NOTCH3):c.2588C>T (p.Ser863Leu) rs758913191 0.00003
NM_000435.3(NOTCH3):c.3311G>A (p.Gly1104Glu) rs145524535 0.00003
NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr) rs376950447 0.00003
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys) rs60373464 0.00003
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=) rs149222385 0.00003
NM_000435.3(NOTCH3):c.5554G>A (p.Ala1852Thr) rs971318341 0.00003
NM_000435.3(NOTCH3):c.6136C>T (p.Pro2046Ser) rs1354320725 0.00003
NM_000435.3(NOTCH3):c.1247T>A (p.Leu416Gln) rs749874158 0.00002
NM_000435.3(NOTCH3):c.1375G>A (p.Ala459Thr) rs370186772 0.00002
NM_000435.3(NOTCH3):c.157G>A (p.Gly53Ser) rs778989879 0.00002
NM_000435.3(NOTCH3):c.1895G>A (p.Gly632Glu) rs1287498840 0.00002
NM_000435.3(NOTCH3):c.2118C>T (p.His706=) rs760444055 0.00002
NM_000435.3(NOTCH3):c.2299C>T (p.Arg767Cys) rs532100840 0.00002
NM_000435.3(NOTCH3):c.2359G>A (p.Glu787Lys) rs1064797234 0.00002
NM_000435.3(NOTCH3):c.2450C>T (p.Pro817Leu) rs142405648 0.00002
NM_000435.3(NOTCH3):c.3173G>T (p.Gly1058Val) rs763038502 0.00002
NM_000435.3(NOTCH3):c.319C>T (p.Arg107Trp) rs768965053 0.00002
NM_000435.3(NOTCH3):c.3305A>T (p.Tyr1102Phe) rs148838056 0.00002
NM_000435.3(NOTCH3):c.3401G>A (p.Gly1134Glu) rs1257366364 0.00002
NM_000435.3(NOTCH3):c.5180C>T (p.Pro1727Leu) rs989373826 0.00002
NM_000435.3(NOTCH3):c.6266C>T (p.Pro2089Leu) rs749288986 0.00002
NM_000435.3(NOTCH3):c.925G>A (p.Glu309Lys) rs1386908989 0.00002
NM_000435.3(NOTCH3):c.1076C>G (p.Pro359Arg) rs1487017745 0.00001
NM_000435.3(NOTCH3):c.107C>T (p.Pro36Leu) rs1311684711 0.00001
NM_000435.3(NOTCH3):c.119C>T (p.Ala40Val) rs766139231 0.00001
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His) rs142031490 0.00001
NM_000435.3(NOTCH3):c.1463T>G (p.Val488Gly) rs760245739 0.00001
NM_000435.3(NOTCH3):c.1522G>A (p.Val508Met) rs755398328 0.00001
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg) rs148166997 0.00001
NM_000435.3(NOTCH3):c.1747G>A (p.Val583Met) rs886044601 0.00001
NM_000435.3(NOTCH3):c.1780G>A (p.Gly594Ser) rs955926125 0.00001
NM_000435.3(NOTCH3):c.1783G>A (p.Gly595Ser) rs770146452 0.00001
NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys) rs1250956327 0.00001
NM_000435.3(NOTCH3):c.2054C>T (p.Pro685Leu) rs768867865 0.00001
NM_000435.3(NOTCH3):c.2119G>A (p.Gly707Ser) rs1378515982 0.00001
NM_000435.3(NOTCH3):c.2137C>T (p.Pro713Ser) rs147855256 0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101 0.00001
NM_000435.3(NOTCH3):c.2209G>A (p.Ala737Thr) rs754815179 0.00001
NM_000435.3(NOTCH3):c.2225C>T (p.Pro742Leu) rs780152379 0.00001
NM_000435.3(NOTCH3):c.2253C>T (p.Ser751=) rs1039939758 0.00001
NM_000435.3(NOTCH3):c.2822A>T (p.Asp941Val) rs369213416 0.00001
NM_000435.3(NOTCH3):c.2833T>A (p.Ser945Thr) rs753330352 0.00001
NM_000435.3(NOTCH3):c.2887G>A (p.Ala963Thr) rs199978689 0.00001
NM_000435.3(NOTCH3):c.2890G>C (p.Asp964His) rs201336164 0.00001
NM_000435.3(NOTCH3):c.305C>T (p.Ala102Val) rs1487780762 0.00001
NM_000435.3(NOTCH3):c.3083G>C (p.Trp1028Ser) rs146829488 0.00001
NM_000435.3(NOTCH3):c.3110G>A (p.Ser1037Asn) rs982964988 0.00001
NM_000435.3(NOTCH3):c.3293C>A (p.Thr1098Asn) rs182238142 0.00001
NM_000435.3(NOTCH3):c.3344A>G (p.Asn1115Ser) rs1399228829 0.00001
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) rs1266914122 0.00001
NM_000435.3(NOTCH3):c.3364G>A (p.Asp1122Asn) rs140147764 0.00001
NM_000435.3(NOTCH3):c.3463G>T (p.Val1155Leu) rs762281787 0.00001
NM_000435.3(NOTCH3):c.3552C>G (p.Asp1184Glu) rs763112778 0.00001
NM_000435.3(NOTCH3):c.3718+6C>T rs545768883 0.00001
NM_000435.3(NOTCH3):c.3919A>G (p.Thr1307Ala) rs1331244525 0.00001
NM_000435.3(NOTCH3):c.3946C>T (p.Pro1316Ser) rs1173886086 0.00001
NM_000435.3(NOTCH3):c.4112G>T (p.Arg1371Leu) rs1177188516 0.00001
NM_000435.3(NOTCH3):c.4381G>A (p.Gly1461Ser) rs1309726793 0.00001
NM_000435.3(NOTCH3):c.4406C>G (p.Pro1469Arg) rs779132149 0.00001
NM_000435.3(NOTCH3):c.467G>A (p.Arg156Gln) rs142492710 0.00001
NM_000435.3(NOTCH3):c.5006G>A (p.Arg1669His) rs1184522923 0.00001
NM_000435.3(NOTCH3):c.5164A>G (p.Met1722Val) rs1307548749 0.00001
NM_000435.3(NOTCH3):c.5203G>A (p.Glu1735Lys) rs959827952 0.00001
NM_000435.3(NOTCH3):c.5281C>T (p.Arg1761Cys) rs771814027 0.00001
NM_000435.3(NOTCH3):c.5398G>T (p.Gly1800Trp) rs1012192046 0.00001
NM_000435.3(NOTCH3):c.5617C>T (p.Arg1873Cys) rs749429793 0.00001
NM_000435.3(NOTCH3):c.5864C>T (p.Thr1955Ile) rs574900839 0.00001
NM_000435.3(NOTCH3):c.6101C>G (p.Pro2034Arg) rs751050359 0.00001
NM_000435.3(NOTCH3):c.6130T>C (p.Cys2044Arg) rs2046642679 0.00001
NM_000435.3(NOTCH3):c.6242G>T (p.Gly2081Val) rs141231747 0.00001
NM_000435.3(NOTCH3):c.6254C>T (p.Thr2085Met) rs1199803741 0.00001
NM_000435.3(NOTCH3):c.6255G>A (p.Thr2085=) rs967649457 0.00001
NM_000435.3(NOTCH3):c.625G>A (p.Gly209Arg) rs776600631 0.00001
NM_000435.3(NOTCH3):c.6395C>T (p.Ala2132Val) rs1300230282 0.00001
NM_000435.3(NOTCH3):c.6440G>A (p.Gly2147Asp) rs897705605 0.00001
NM_000435.3(NOTCH3):c.6665C>T (p.Pro2222Leu) rs1489373939 0.00001
NM_000435.3(NOTCH3):c.6701G>A (p.Arg2234His) rs750631177 0.00001
NM_000435.3(NOTCH3):c.6924G>A (p.Gly2308=) rs753654158 0.00001
NM_000435.3(NOTCH3):c.730C>T (p.Arg244Ter) rs2046929318 0.00001
NM_000435.3(NOTCH3):c.772T>C (p.Tyr258His) rs887378958 0.00001
NC_000019.9:g.(?_15284859)_(15311716_?)dup
NM_000435.3(NOTCH3):c.1000G>C (p.Ala334Pro)
NM_000435.3(NOTCH3):c.1003T>G (p.Ser335Ala) rs2145439645
NM_000435.3(NOTCH3):c.1024A>G (p.Met342Val)
NM_000435.3(NOTCH3):c.1026G>A (p.Met342Ile)
NM_000435.3(NOTCH3):c.1027G>C (p.Gly343Arg) rs1599393810
NM_000435.3(NOTCH3):c.1044G>A (p.Leu348=)
NM_000435.3(NOTCH3):c.1051C>A (p.Leu351Met) rs1599392148
NM_000435.3(NOTCH3):c.1053G>A (p.Leu351=)
NM_000435.3(NOTCH3):c.1066G>A (p.Val356Ile) rs1599392135
NM_000435.3(NOTCH3):c.1075C>G (p.Pro359Ala) rs2046910565
NM_000435.3(NOTCH3):c.1109C>T (p.Pro370Leu)
NM_000435.3(NOTCH3):c.1120C>T (p.Arg374Trp) rs867723391
NM_000435.3(NOTCH3):c.1121G>A (p.Arg374Gln)
NM_000435.3(NOTCH3):c.112G>T (p.Ala38Ser)
NM_000435.3(NOTCH3):c.1144G>T (p.Gly382Cys) rs2145437046
NM_000435.3(NOTCH3):c.1151C>T (p.Thr384Met)
NM_000435.3(NOTCH3):c.1153G>A (p.Gly385Ser) rs1568360640
NM_000435.3(NOTCH3):c.1179C>A (p.Asp393Glu)
NM_000435.3(NOTCH3):c.1182G>T (p.Glu394Asp)
NM_000435.3(NOTCH3):c.1191C>T (p.Ile397=)
NM_000435.3(NOTCH3):c.1193-10C>T
NM_000435.3(NOTCH3):c.1195G>A (p.Ala399Thr) rs1390414547
NM_000435.3(NOTCH3):c.1223G>T (p.Cys408Phe)
NM_000435.3(NOTCH3):c.1262G>A (p.Arg421His) rs2145436323
NM_000435.3(NOTCH3):c.1268A>G (p.Tyr423Cys) rs1555729064
NM_000435.3(NOTCH3):c.1303T>C (p.Cys435Arg)
NM_000435.3(NOTCH3):c.1304G>A (p.Cys435Tyr)
NM_000435.3(NOTCH3):c.1305T>G (p.Cys435Trp) rs2046907170
NM_000435.3(NOTCH3):c.1313G>T (p.Gly438Val)
NM_000435.3(NOTCH3):c.1321C>G (p.Arg441Gly)
NM_000435.3(NOTCH3):c.1322G>A (p.Arg441Gln)
NM_000435.3(NOTCH3):c.1327C>T (p.Gln443Ter)
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.1368_1369del (p.Ile456fs) rs2145435979
NM_000435.3(NOTCH3):c.1369T>C (p.Cys457Arg)
NM_000435.3(NOTCH3):c.1375G>C (p.Ala459Pro) rs370186772
NM_000435.3(NOTCH3):c.1377A>T (p.Ala459=)
NM_000435.3(NOTCH3):c.1385C>T (p.Thr462Ile)
NM_000435.3(NOTCH3):c.139A>G (p.Ser47Gly) rs775259883
NM_000435.3(NOTCH3):c.1414G>A (p.Glu472Lys)
NM_000435.3(NOTCH3):c.1449C>T (p.Val483=)
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys) rs2046899820
NM_000435.3(NOTCH3):c.1490C>G (p.Ser497Trp)
NM_000435.3(NOTCH3):c.1492+1G>A
NM_000435.3(NOTCH3):c.1492+2T>C
NM_000435.3(NOTCH3):c.1508C>T (p.Thr503Met)
NM_000435.3(NOTCH3):c.1510T>A (p.Cys504Ser) rs2145434432
NM_000435.3(NOTCH3):c.1511G>A (p.Cys504Tyr)
NM_000435.3(NOTCH3):c.1512T>G (p.Cys504Trp)
NM_000435.3(NOTCH3):c.1534G>A (p.Ala512Thr)
NM_000435.3(NOTCH3):c.1561_1569dup (p.Val523_Asp524insLysCysVal)
NM_000435.3(NOTCH3):c.1566C>G (p.Cys522Trp)
NM_000435.3(NOTCH3):c.1572C>G (p.Asp524Glu)
NM_000435.3(NOTCH3):c.1576C>T (p.Pro526Ser)
NM_000435.3(NOTCH3):c.1606+6G>T
NM_000435.3(NOTCH3):c.1619C>G (p.Thr540Arg)
NM_000435.3(NOTCH3):c.161G>A (p.Arg54His) rs754104109
NM_000435.3(NOTCH3):c.1621C>A (p.Leu541Met) rs1410670785
NM_000435.3(NOTCH3):c.1635C>G (p.Asn545Lys)
NM_000435.3(NOTCH3):c.1698C>G (p.Phe566Leu)
NM_000435.3(NOTCH3):c.1709G>T (p.Cys570Phe) rs2145433085
NM_000435.3(NOTCH3):c.1715C>T (p.Pro572Leu)
NM_000435.3(NOTCH3):c.1720T>C (p.Tyr574His) rs1358697792
NM_000435.3(NOTCH3):c.1732C>A (p.Arg578Ser)
NM_000435.3(NOTCH3):c.1749G>A (p.Val583=)
NM_000435.3(NOTCH3):c.1756T>C (p.Cys586Arg)
NM_000435.3(NOTCH3):c.1775G>T (p.Arg592Leu) rs763115768
NM_000435.3(NOTCH3):c.1797C>G (p.Asp599Glu)
NM_000435.3(NOTCH3):c.1808A>G (p.Lys603Arg) rs1057519102
NM_000435.3(NOTCH3):c.1820G>A (p.Arg607His)
NM_000435.3(NOTCH3):c.1822T>C (p.Cys608Arg)
NM_000435.3(NOTCH3):c.182G>A (p.Arg61Gln)
NM_000435.3(NOTCH3):c.1840+3G>A rs2046888185
NM_000435.3(NOTCH3):c.1867G>A (p.Asp623Asn)
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr) rs758997426
NM_000435.3(NOTCH3):c.1883C>A (p.Pro628His)
NM_000435.3(NOTCH3):c.1903C>T (p.Arg635Cys) rs753801611
NM_000435.3(NOTCH3):c.1913T>C (p.Ile638Thr) rs2145432343
NM_000435.3(NOTCH3):c.1930G>A (p.Val644Ile)
NM_000435.3(NOTCH3):c.1957C>A (p.Leu653Ile) rs1336688514
NM_000435.3(NOTCH3):c.1957C>T (p.Leu653Phe)
NM_000435.3(NOTCH3):c.1966G>C (p.Val656Leu) rs560752299
NM_000435.3(NOTCH3):c.197+8C>T
NM_000435.3(NOTCH3):c.1972A>T (p.Ile658Phe)
NM_000435.3(NOTCH3):c.1999G>T (p.Gly667Cys) rs376046941
NM_000435.3(NOTCH3):c.2011T>A (p.Ser671Thr)
NM_000435.3(NOTCH3):c.2033G>A (p.Gly678Asp) rs1599387375
NM_000435.3(NOTCH3):c.2071C>A (p.Leu691Ile)
NM_000435.3(NOTCH3):c.208G>T (p.Gly70Cys)
NM_000435.3(NOTCH3):c.2180C>T (p.Pro727Leu) rs2046872807
NM_000435.3(NOTCH3):c.218G>T (p.Gly73Val)
NM_000435.3(NOTCH3):c.21CCG[4] (p.Arg13del) rs894374843
NM_000435.3(NOTCH3):c.21CCG[6] (p.Arg13dup) rs894374843
NM_000435.3(NOTCH3):c.2217G>T (p.Glu739Asp)
NM_000435.3(NOTCH3):c.2236G>T (p.Gly746Cys)
NM_000435.3(NOTCH3):c.227_228dup (p.Gln77fs) rs2145443760
NM_000435.3(NOTCH3):c.2296+3G>T rs2145429314
NM_000435.3(NOTCH3):c.2318C>A (p.Ser773Tyr) rs2145428834
NM_000435.3(NOTCH3):c.231G>C (p.Gln77His) rs1438944422
NM_000435.3(NOTCH3):c.2330C>T (p.Pro777Leu)
NM_000435.3(NOTCH3):c.2335C>G (p.Pro779Ala)
NM_000435.3(NOTCH3):c.2341G>A (p.Glu781Lys) rs2145428734
NM_000435.3(NOTCH3):c.2369C>T (p.Pro790Leu) rs2145428626
NM_000435.3(NOTCH3):c.2394C>A (p.Cys798Ter)
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly) rs1599395616
NM_000435.3(NOTCH3):c.2456C>A (p.Pro819His) rs2145427778
NM_000435.3(NOTCH3):c.2460T>G (p.Cys820Trp)
NM_000435.3(NOTCH3):c.2464C>T (p.Pro822Ser) rs1469970917
NM_000435.3(NOTCH3):c.2467C>A (p.His823Asn)
NM_000435.3(NOTCH3):c.2507C>A (p.Thr836Asn) rs34338511
NM_000435.3(NOTCH3):c.2525C>G (p.Thr842Ser) rs1215184250
NM_000435.3(NOTCH3):c.2539G>A (p.Asp847Asn)
NM_000435.3(NOTCH3):c.2542C>G (p.Gln848Glu)
NM_000435.3(NOTCH3):c.2557T>C (p.Cys853Arg) rs1568357588
NM_000435.3(NOTCH3):c.2632G>C (p.Gly878Arg)
NM_000435.3(NOTCH3):c.2641G>A (p.Gly881Ser) rs1436528088
NM_000435.3(NOTCH3):c.2645C>T (p.Pro882Leu) rs760472019
NM_000435.3(NOTCH3):c.2660A>C (p.Asp887Ala)
NM_000435.3(NOTCH3):c.2699C>T (p.Thr900Ile)
NM_000435.3(NOTCH3):c.2713G>A (p.Val905Met)
NM_000435.3(NOTCH3):c.2716G>A (p.Ala906Thr)
NM_000435.3(NOTCH3):c.2717C>T (p.Ala906Val) rs754997329
NM_000435.3(NOTCH3):c.2741_2742delinsAG (p.Pro914Gln) rs2145423971
NM_000435.3(NOTCH3):c.2741_2742inv (p.Pro914Leu)
NM_000435.3(NOTCH3):c.2747A>G (p.Tyr916Cys)
NM_000435.3(NOTCH3):c.2749G>A (p.Gly917Arg) rs150338460
NM_000435.3(NOTCH3):c.2753G>A (p.Gly918Asp) rs2145423909
NM_000435.3(NOTCH3):c.2762G>A (p.Cys921Tyr)
NM_000435.3(NOTCH3):c.2793-2A>G
NM_000435.3(NOTCH3):c.2793-8C>A rs960266832
NM_000435.3(NOTCH3):c.2827G>T (p.Val943Leu) rs764894150
NM_000435.3(NOTCH3):c.2840G>C (p.Ser947Thr) rs1555728008
NM_000435.3(NOTCH3):c.2857G>T (p.Gly953Cys)
NM_000435.3(NOTCH3):c.2879A>T (p.Gln960Leu)
NM_000435.3(NOTCH3):c.289G>A (p.Val97Met)
NM_000435.3(NOTCH3):c.2905C>T (p.Arg969Trp)
NM_000435.3(NOTCH3):c.2918A>C (p.His973Pro)
NM_000435.3(NOTCH3):c.2920G>T (p.Gly974Trp) rs747234439
NM_000435.3(NOTCH3):c.2938G>T (p.Ala980Ser)
NM_000435.3(NOTCH3):c.2956T>C (p.Cys986Arg)
NM_000435.3(NOTCH3):c.2962T>C (p.Cys988Arg) rs2145422681
NM_000435.3(NOTCH3):c.2981del (p.Gly994fs)
NM_000435.3(NOTCH3):c.2996C>T (p.Thr999Met)
NM_000435.3(NOTCH3):c.29G>A (p.Arg10His)
NM_000435.3(NOTCH3):c.3044G>A (p.Cys1015Tyr) rs1555727938
NM_000435.3(NOTCH3):c.304G>T (p.Ala102Ser)
NM_000435.3(NOTCH3):c.3061dup (p.Tyr1021fs) rs2145421802
NM_000435.3(NOTCH3):c.3064T>A (p.Cys1022Ser) rs2046833026
NM_000435.3(NOTCH3):c.3084G>C (p.Trp1028Cys) rs2046832726
NM_000435.3(NOTCH3):c.3088G>A (p.Gly1030Arg)
NM_000435.3(NOTCH3):c.308G>A (p.Arg103Gln)
NM_000435.3(NOTCH3):c.3107G>A (p.Arg1036Gln)
NM_000435.3(NOTCH3):c.3130G>T (p.Ala1044Ser) rs767672719
NM_000435.3(NOTCH3):c.313T>C (p.Ser105Pro)
NM_000435.3(NOTCH3):c.3148C>T (p.Arg1050Trp)
NM_000435.3(NOTCH3):c.3193G>A (p.Asp1065Asn) rs920169956
NM_000435.3(NOTCH3):c.3206A>G (p.Tyr1069Cys) rs1438064001
NM_000435.3(NOTCH3):c.320G>A (p.Arg107Gln)
NM_000435.3(NOTCH3):c.3298C>T (p.Arg1100Cys)
NM_000435.3(NOTCH3):c.3328-1G>A rs886044600
NM_000435.3(NOTCH3):c.3353A>T (p.Asn1118Ile)
NM_000435.3(NOTCH3):c.341-32_341-21del
NM_000435.3(NOTCH3):c.3425C>T (p.Ala1142Val)
NM_000435.3(NOTCH3):c.3472G>A (p.Glu1158Lys)
NM_000435.3(NOTCH3):c.3488A>T (p.Asp1163Val) rs1568354937
NM_000435.3(NOTCH3):c.3542C>T (p.Thr1181Ile) rs1216306549
NM_000435.3(NOTCH3):c.3548T>C (p.Val1183Ala)
NM_000435.3(NOTCH3):c.3568C>T (p.Arg1190Cys)
NM_000435.3(NOTCH3):c.3589T>C (p.Tyr1197His)
NM_000435.3(NOTCH3):c.3628C>G (p.Arg1210Gly)
NM_000435.3(NOTCH3):c.363T>A (p.Asp121Glu) rs2046935214
NM_000435.3(NOTCH3):c.370C>G (p.Leu124Val) rs2145442481
NM_000435.3(NOTCH3):c.3718+5G>A
NM_000435.3(NOTCH3):c.3727T>C (p.Cys1243Arg)
NM_000435.3(NOTCH3):c.3757_3758delinsAG (p.Gln1253Arg) rs2046814637
NM_000435.3(NOTCH3):c.37C>T (p.Arg13Cys)
NM_000435.3(NOTCH3):c.3829_3835del (p.Cys1277fs)
NM_000435.3(NOTCH3):c.3837+10G>T rs1555727565
NM_000435.3(NOTCH3):c.3837+3A>G
NM_000435.3(NOTCH3):c.3838C>A (p.Pro1280Thr) rs958354298
NM_000435.3(NOTCH3):c.3838C>T (p.Pro1280Ser)
NM_000435.3(NOTCH3):c.3863G>C (p.Arg1288Pro)
NM_000435.3(NOTCH3):c.3865G>A (p.Val1289Met)
NM_000435.3(NOTCH3):c.3865del (p.Val1289fs) rs2046807565
NM_000435.3(NOTCH3):c.3871C>G (p.Arg1291Gly) rs2046807463
NM_000435.3(NOTCH3):c.3893G>T (p.Cys1298Phe) rs2046807248
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser) rs767150916
NM_000435.3(NOTCH3):c.3926G>C (p.Arg1309Pro)
NM_000435.3(NOTCH3):c.3932C>T (p.Pro1311Leu)
NM_000435.3(NOTCH3):c.3944G>A (p.Cys1315Tyr) rs1432396805
NM_000435.3(NOTCH3):c.3949C>T (p.Pro1317Ser) rs1481252730
NM_000435.3(NOTCH3):c.3982C>A (p.Pro1328Thr) rs2145415421
NM_000435.3(NOTCH3):c.3989C>T (p.Ser1330Leu)
NM_000435.3(NOTCH3):c.4000G>T (p.Ala1334Ser)
NM_000435.3(NOTCH3):c.4004_4006dup (p.Ser1335dup) rs1555727412
NM_000435.3(NOTCH3):c.4018G>A (p.Ala1340Thr)
NM_000435.3(NOTCH3):c.4025C>T (p.Ala1342Val)
NM_000435.3(NOTCH3):c.4029_4030del (p.Cys1344fs)
NM_000435.3(NOTCH3):c.4029del (p.Cys1344fs)
NM_000435.3(NOTCH3):c.4038C>T (p.His1346=) rs1555727404
NM_000435.3(NOTCH3):c.4111C>G (p.Arg1371Gly) rs2145415056
NM_000435.3(NOTCH3):c.427C>T (p.Leu143Phe) rs772201554
NM_000435.3(NOTCH3):c.4347_4350dup (p.Cys1451fs) rs2145414374
NM_000435.3(NOTCH3):c.4404-6C>G rs1157189739
NM_000435.3(NOTCH3):c.4417_4428dup (p.Lys1473_Ala1476dup) rs1599374922
NM_000435.3(NOTCH3):c.4418_4422del (p.Lys1473fs) rs2046769538
NM_000435.3(NOTCH3):c.4431C>A (p.Asp1477Glu)
NM_000435.3(NOTCH3):c.4475A>C (p.Glu1492Ala) rs2046768843
NM_000435.3(NOTCH3):c.4521G>A (p.Leu1507=)
NM_000435.3(NOTCH3):c.4528C>T (p.Arg1510Cys) rs763870059
NM_000435.3(NOTCH3):c.4534G>A (p.Val1512Met)
NM_000435.3(NOTCH3):c.4534G>C (p.Val1512Leu)
NM_000435.3(NOTCH3):c.458G>A (p.Arg153His)
NM_000435.3(NOTCH3):c.4627C>A (p.Leu1543Met) rs111838442
NM_000435.3(NOTCH3):c.4637G>A (p.Arg1546His)
NM_000435.3(NOTCH3):c.4648C>G (p.His1550Asp)
NM_000435.3(NOTCH3):c.4676A>G (p.His1559Arg) rs2145408576
NM_000435.3(NOTCH3):c.4679G>A (p.Arg1560Gln)
NM_000435.3(NOTCH3):c.4737-7C>G
NM_000435.3(NOTCH3):c.4762A>C (p.Asn1588His) rs2046727426
NM_000435.3(NOTCH3):c.4798T>A (p.Cys1600Ser) rs2046726978
NM_000435.3(NOTCH3):c.4798T>C (p.Cys1600Arg)
NM_000435.3(NOTCH3):c.4806C>A (p.Pro1602=) rs578082632
NM_000435.3(NOTCH3):c.4826A>T (p.Asp1609Val) rs2145401603
NM_000435.3(NOTCH3):c.4864T>C (p.Phe1622Leu)
NM_000435.3(NOTCH3):c.4868C>G (p.Pro1623Arg)
NM_000435.3(NOTCH3):c.4880G>T (p.Arg1627Leu) rs1407627346
NM_000435.3(NOTCH3):c.4944_4945dup (p.Ala1649fs) rs2046723155
NM_000435.3(NOTCH3):c.5000G>A (p.Arg1667His)
NM_000435.3(NOTCH3):c.5005C>G (p.Arg1669Gly)
NM_000435.3(NOTCH3):c.5014A>T (p.Ser1672Cys)
NM_000435.3(NOTCH3):c.5015G>A (p.Ser1672Asn) rs2046722168
NM_000435.3(NOTCH3):c.5030C>T (p.Pro1677Leu)
NM_000435.3(NOTCH3):c.506G>A (p.Arg169His)
NM_000435.3(NOTCH3):c.5089G>T (p.Val1697Leu)
NM_000435.3(NOTCH3):c.5136C>G (p.Ser1712Arg) rs1360797131
NM_000435.3(NOTCH3):c.5149G>A (p.Val1717Met)
NM_000435.3(NOTCH3):c.5180C>G (p.Pro1727Arg) rs989373826
NM_000435.3(NOTCH3):c.5203G>C (p.Glu1735Gln)
NM_000435.3(NOTCH3):c.5258A>G (p.His1753Arg) rs1599366686
NM_000435.3(NOTCH3):c.5285T>C (p.Val1762Ala) rs750747488
NM_000435.3(NOTCH3):c.5297T>C (p.Met1766Thr) rs1420105350
NM_000435.3(NOTCH3):c.530C>T (p.Thr177Ile) rs919800459
NM_000435.3(NOTCH3):c.531_532delinsTT (p.Pro178Ser) rs2145441756
NM_000435.3(NOTCH3):c.5354G>C (p.Arg1785Pro)
NM_000435.3(NOTCH3):c.5366G>A (p.Gly1789Asp) rs1085307509
NM_000435.3(NOTCH3):c.5399G>C (p.Gly1800Ala)
NM_000435.3(NOTCH3):c.550C>T (p.Gln184Ter)
NM_000435.3(NOTCH3):c.5543G>A (p.Arg1848His)
NM_000435.3(NOTCH3):c.5552G>A (p.Arg1851His)
NM_000435.3(NOTCH3):c.557C>T (p.Pro186Leu)
NM_000435.3(NOTCH3):c.5603A>G (p.Gln1868Arg) rs2145391979
NM_000435.3(NOTCH3):c.5647G>T (p.Asp1883Tyr) rs1568347508
NM_000435.3(NOTCH3):c.5694C>T (p.Asp1898=) rs753245814
NM_000435.3(NOTCH3):c.5704C>T (p.Arg1902Cys)
NM_000435.3(NOTCH3):c.5723C>T (p.Thr1908Met)
NM_000435.3(NOTCH3):c.5734C>G (p.Leu1912Val)
NM_000435.3(NOTCH3):c.5738C>T (p.Ala1913Val)
NM_000435.3(NOTCH3):c.5750C>T (p.Ala1917Val)
NM_000435.3(NOTCH3):c.5780C>A (p.Ala1927Asp)
NM_000435.3(NOTCH3):c.5795_5796delinsAT (p.Val1932Asp)
NM_000435.3(NOTCH3):c.5798A>G (p.Asn1933Ser)
NM_000435.3(NOTCH3):c.583G>A (p.Glu195Lys) rs1599394696
NM_000435.3(NOTCH3):c.589C>T (p.Pro197Ser)
NM_000435.3(NOTCH3):c.5901G>A (p.Met1967Ile) rs373866355
NM_000435.3(NOTCH3):c.5902C>T (p.Gln1968Ter)
NM_000435.3(NOTCH3):c.5914G>A (p.Glu1972Lys) rs2145384096
NM_000435.3(NOTCH3):c.5990A>G (p.Asn1997Ser)
NM_000435.3(NOTCH3):c.5993G>A (p.Arg1998His) rs2046644859
NM_000435.3(NOTCH3):c.6016A>T (p.Arg2006Trp) rs375674115
NM_000435.3(NOTCH3):c.6035C>G (p.Ala2012Gly)
NM_000435.3(NOTCH3):c.6043A>G (p.Arg2015Gly) rs2046644200
NM_000435.3(NOTCH3):c.605_606inv (p.Ala202Val)
NM_000435.3(NOTCH3):c.6065G>A (p.Arg2022His)
NM_000435.3(NOTCH3):c.6097C>A (p.Pro2033Thr) rs375213868
NM_000435.3(NOTCH3):c.6102dup (p.Gly2035fs)
NM_000435.3(NOTCH3):c.6129C>T (p.Leu2043=) rs943996920
NM_000435.3(NOTCH3):c.6169C>T (p.Gln2057Ter) rs2145382884
NM_000435.3(NOTCH3):c.6187A>T (p.Ser2063Cys)
NM_000435.3(NOTCH3):c.6194G>A (p.Arg2065Lys)
NM_000435.3(NOTCH3):c.61C>T (p.Pro21Ser)
NM_000435.3(NOTCH3):c.6201dup (p.Gly2068fs)
NM_000435.3(NOTCH3):c.6227G>T (p.Gly2076Val)
NM_000435.3(NOTCH3):c.6233G>A (p.Arg2078Gln)
NM_000435.3(NOTCH3):c.6241G>A (p.Gly2081Ser)
NM_000435.3(NOTCH3):c.6260C>G (p.Ala2087Gly) rs2145382342
NM_000435.3(NOTCH3):c.6269del (p.Gly2090fs) rs1011713833
NM_000435.3(NOTCH3):c.6276G>A (p.Leu2092=)
NM_000435.3(NOTCH3):c.6287C>T (p.Ser2096Leu)
NM_000435.3(NOTCH3):c.6323C>T (p.Pro2108Leu)
NM_000435.3(NOTCH3):c.6378C>T (p.Pro2126=)
NM_000435.3(NOTCH3):c.6379T>A (p.Tyr2127Asn)
NM_000435.3(NOTCH3):c.6409C>G (p.Leu2137Val) rs2046639059
NM_000435.3(NOTCH3):c.6443T>G (p.Leu2148Arg) rs2145381386
NM_000435.3(NOTCH3):c.6446G>A (p.Gly2149Glu)
NM_000435.3(NOTCH3):c.6448C>T (p.Arg2150Cys)
NM_000435.3(NOTCH3):c.6454C>G (p.Pro2152Ala) rs2145381350
NM_000435.3(NOTCH3):c.6463G>C (p.Gly2155Arg)
NM_000435.3(NOTCH3):c.6505C>T (p.Pro2169Ser)
NM_000435.3(NOTCH3):c.6536C>T (p.Ala2179Val)
NM_000435.3(NOTCH3):c.6538C>A (p.Pro2180Thr)
NM_000435.3(NOTCH3):c.6551C>T (p.Ser2184Leu)
NM_000435.3(NOTCH3):c.6559C>G (p.Leu2187Val) rs969052177
NM_000435.3(NOTCH3):c.6578C>A (p.Pro2193His)
NM_000435.3(NOTCH3):c.6587_6592dup (p.Asn2197_Pro2198insLeuAsn)
NM_000435.3(NOTCH3):c.6643C>A (p.Pro2215Thr)
NM_000435.3(NOTCH3):c.6679C>T (p.His2227Tyr) rs779441679
NM_000435.3(NOTCH3):c.6681C>G (p.His2227Gln) rs1366113655
NM_000435.3(NOTCH3):c.6694A>G (p.Lys2232Glu)
NM_000435.3(NOTCH3):c.6705_6730del (p.Phe2235fs) rs2145380263
NM_000435.3(NOTCH3):c.6709C>G (p.Arg2237Gly) rs749189648
NM_000435.3(NOTCH3):c.6709C>T (p.Arg2237Trp)
NM_000435.3(NOTCH3):c.6710G>T (p.Arg2237Leu) rs537601286
NM_000435.3(NOTCH3):c.6726C>T (p.His2242=)
NM_000435.3(NOTCH3):c.6727C>T (p.Pro2243Ser)
NM_000435.3(NOTCH3):c.6755C>T (p.Pro2252Leu) rs201073642
NM_000435.3(NOTCH3):c.6767C>G (p.Ala2256Gly)
NM_000435.3(NOTCH3):c.6767C>T (p.Ala2256Val)
NM_000435.3(NOTCH3):c.6850A>T (p.Thr2284Ser) rs1177268940
NM_000435.3(NOTCH3):c.6905A>G (p.Gln2302Arg)
NM_000435.3(NOTCH3):c.6928C>T (p.Gln2310Ter)
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr) rs1599394351
NM_000435.3(NOTCH3):c.724G>C (p.Gly242Arg)
NM_000435.3(NOTCH3):c.733T>C (p.Cys245Arg) rs2145440767
NM_000435.3(NOTCH3):c.740A>G (p.Asn247Ser)
NM_000435.3(NOTCH3):c.742_743delinsAT (p.Gly248Met)
NM_000435.3(NOTCH3):c.748dup (p.Thr250fs)
NM_000435.3(NOTCH3):c.763G>A (p.Val255Ile) rs1160655218
NM_000435.3(NOTCH3):c.770C>T (p.Thr257Ile)
NM_000435.3(NOTCH3):c.77C>T (p.Ala26Val) rs1329279009
NM_000435.3(NOTCH3):c.790C>T (p.Pro264Ser)
NM_000435.3(NOTCH3):c.802+6C>G
NM_000435.3(NOTCH3):c.827A>T (p.Asp276Val)
NM_000435.3(NOTCH3):c.83C>G (p.Pro28Arg)
NM_000435.3(NOTCH3):c.900C>T (p.Cys300=)
NM_000435.3(NOTCH3):c.911A>G (p.Asn304Ser)
NM_000435.3(NOTCH3):c.924C>T (p.Gly308=) rs1043995
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr) rs1568361404
NM_000435.3(NOTCH3):c.976G>A (p.Gly326Arg)

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