ClinVar Miner

List of variants in gene NOTCH3 reported by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 476
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=) rs1043996 0.56438
NM_000435.3(NOTCH3):c.303C>T (p.Thr101=) rs3815188 0.18114
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) rs10408676 0.08167
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350 0.02709
NM_000435.3(NOTCH3):c.6753C>T (p.Ser2251=) rs61731975 0.02703
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020 0.02545
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217 0.01566
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745 0.01547
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=) rs114887570 0.01539
NM_000435.3(NOTCH3):c.6813T>C (p.Pro2271=) rs61731974 0.01445
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799 0.01273
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093 0.00784
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045 0.00755
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403 0.00417
NM_000435.3(NOTCH3):c.*4G>A rs182111655 0.00356
NM_000435.3(NOTCH3):c.5370C>T (p.Phe1790=) rs35887416 0.00287
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile) rs34338511 0.00222
NM_000435.3(NOTCH3):c.2724C>T (p.Phe908=) rs61731967 0.00222
NM_000435.3(NOTCH3):c.2175T>C (p.Ser725=) rs141993521 0.00214
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His) rs75291244 0.00213
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_000435.3(NOTCH3):c.4374C>T (p.Cys1458=) rs150288106 0.00162
NM_000435.3(NOTCH3):c.3314G>C (p.Gly1105Ala) rs143764521 0.00158
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=) rs376598183 0.00145
NM_000435.3(NOTCH3):c.2682C>T (p.Asn894=) rs138245070 0.00107
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012 0.00081
NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=) rs141346023 0.00081
NM_000435.3(NOTCH3):c.4025C>A (p.Ala1342Asp) rs888391580 0.00070
NM_000435.3(NOTCH3):c.338G>A (p.Arg113Gln) rs143385744 0.00064
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_000435.3(NOTCH3):c.5992C>T (p.Arg1998Cys) rs201105335 0.00046
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val) rs150037063 0.00043
NM_000435.3(NOTCH3):c.4858C>T (p.Leu1620=) rs144401090 0.00041
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp) rs115872852 0.00036
NM_000435.3(NOTCH3):c.536G>T (p.Gly179Val) rs142778401 0.00036
NM_000435.3(NOTCH3):c.2580C>T (p.Asn860=) rs201436750 0.00035
NM_000435.3(NOTCH3):c.5200-4C>A rs375036447 0.00035
NM_000435.3(NOTCH3):c.1493-8C>T rs201202842 0.00032
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys) rs369813654 0.00031
NM_000435.3(NOTCH3):c.*3C>T rs202157455 0.00030
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val) rs368146879 0.00026
NM_000435.3(NOTCH3):c.5129G>A (p.Gly1710Asp) rs143411026 0.00024
NM_000435.3(NOTCH3):c.6573G>A (p.Pro2191=) rs576653145 0.00024
NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg) rs141956294 0.00023
NM_000435.3(NOTCH3):c.3428G>A (p.Arg1143His) rs144559574 0.00021
NM_000435.3(NOTCH3):c.6504G>C (p.Val2168=) rs546608637 0.00021
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys) rs375873637 0.00020
NM_000435.3(NOTCH3):c.5114+10C>G rs369547319 0.00019
NM_000435.3(NOTCH3):c.6684C>T (p.Ser2228=) rs755461072 0.00019
NM_000435.3(NOTCH3):c.5895G>A (p.Lys1965=) rs140567100 0.00016
NM_000435.3(NOTCH3):c.996C>T (p.Arg332=) rs183500505 0.00016
NM_000435.3(NOTCH3):c.181C>T (p.Arg61Trp) rs200595885 0.00015
NM_000435.3(NOTCH3):c.4455C>T (p.Asp1485=) rs552265898 0.00014
NM_000435.3(NOTCH3):c.1677C>T (p.Cys559=) rs113216024 0.00013
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.6300G>A (p.Ser2100=) rs183839795 0.00013
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942 0.00012
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser) rs764148985 0.00011
NM_000435.3(NOTCH3):c.2941C>T (p.His981Tyr) rs143695196 0.00011
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166 0.00011
NM_000435.3(NOTCH3):c.5124C>T (p.Ala1708=) rs149766864 0.00011
NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile) rs142007575 0.00011
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935 0.00011
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_000435.3(NOTCH3):c.5284G>A (p.Val1762Met) rs756495084 0.00010
NM_000435.3(NOTCH3):c.1854A>G (p.Glu618=) rs150438748 0.00009
NM_000435.3(NOTCH3):c.3421G>A (p.Val1141Met) rs373181668 0.00009
NM_000435.3(NOTCH3):c.4046C>T (p.Ser1349Phe) rs937871148 0.00009
NM_000435.3(NOTCH3):c.4053C>T (p.Arg1351=) rs927758025 0.00009
NM_000435.3(NOTCH3):c.5900T>C (p.Met1967Thr) rs377589088 0.00009
NM_000435.3(NOTCH3):c.624C>T (p.Asn208=) rs368179321 0.00009
NM_000435.3(NOTCH3):c.2995-6C>T rs552141058 0.00008
NM_000435.3(NOTCH3):c.5376G>A (p.Pro1792=) rs374875084 0.00008
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.5678G>A (p.Arg1893Gln) rs372834264 0.00007
NM_000435.3(NOTCH3):c.6024G>A (p.Pro2008=) rs766274305 0.00007
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189 0.00006
NM_000435.3(NOTCH3):c.1416G>T (p.Glu472Asp) rs1416152273 0.00006
NM_000435.3(NOTCH3):c.1578C>G (p.Pro526=) rs775208731 0.00006
NM_000435.3(NOTCH3):c.1840+8C>T rs372100017 0.00006
NM_000435.3(NOTCH3):c.1920C>T (p.Arg640=) rs140818133 0.00006
NM_000435.3(NOTCH3):c.2282C>T (p.Pro761Leu) rs150866973 0.00006
NM_000435.3(NOTCH3):c.2652C>T (p.Cys884=) rs767473898 0.00006
NM_000435.3(NOTCH3):c.2732C>A (p.Thr911Asn) rs756288782 0.00006
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu) rs778715118 0.00006
NM_000435.3(NOTCH3):c.432C>T (p.Cys144=) rs748339634 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.5569C>T (p.Arg1857Trp) rs752169336 0.00006
NM_000435.3(NOTCH3):c.5937C>T (p.Ala1979=) rs570392715 0.00006
NM_000435.3(NOTCH3):c.6010C>T (p.Leu2004=) rs370927186 0.00006
NM_000435.3(NOTCH3):c.6164C>T (p.Ala2055Val) rs769066713 0.00006
NM_000435.3(NOTCH3):c.6666G>A (p.Pro2222=) rs769365145 0.00006
NM_000435.3(NOTCH3):c.6747C>T (p.Pro2249=) rs769454994 0.00006
NM_000435.3(NOTCH3):c.6802G>A (p.Glu2268Lys) rs996150018 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.2319C>T (p.Ser773=) rs182623173 0.00005
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=) rs200881673 0.00005
NM_000435.3(NOTCH3):c.3575C>T (p.Thr1192Ile) rs150811543 0.00005
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165 0.00005
NM_000435.3(NOTCH3):c.5673C>T (p.Leu1891=) rs758393959 0.00005
NM_000435.3(NOTCH3):c.591C>T (p.Pro197=) rs367943979 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.1036+10C>T rs776962888 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.1729A>G (p.Thr577Ala) rs368181126 0.00004
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 0.00004
NM_000435.3(NOTCH3):c.1873G>A (p.Ala625Thr) rs747633377 0.00004
NM_000435.3(NOTCH3):c.1918C>T (p.Arg640Cys) rs760768552 0.00004
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_000435.3(NOTCH3):c.223C>T (p.Arg75Trp) rs762164861 0.00004
NM_000435.3(NOTCH3):c.2296+8C>T rs375460301 0.00004
NM_000435.3(NOTCH3):c.3566T>C (p.Phe1189Ser) rs764617561 0.00004
NM_000435.3(NOTCH3):c.4875A>C (p.Pro1625=) rs538466132 0.00004
NM_000435.3(NOTCH3):c.488G>A (p.Arg163Gln) rs761209241 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.6570G>A (p.Ala2190=) rs771107661 0.00004
NM_000435.3(NOTCH3):c.6926C>G (p.Pro2309Arg) rs548018044 0.00004
NM_000435.3(NOTCH3):c.825G>A (p.Val275=) rs138837495 0.00004
NM_000435.3(NOTCH3):c.963C>T (p.Ala321=) rs538938551 0.00004
NM_000435.3(NOTCH3):c.1966G>A (p.Val656Met) rs560752299 0.00003
NM_000435.3(NOTCH3):c.204G>A (p.Pro68=) rs772468516 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.3961G>A (p.Gly1321Arg) rs1030392985 0.00003
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=) rs149222385 0.00003
NM_000435.3(NOTCH3):c.5265G>A (p.Leu1755=) rs1021237220 0.00003
NM_000435.3(NOTCH3):c.5646C>T (p.Ala1882=) rs758307531 0.00003
NM_000435.3(NOTCH3):c.6136C>T (p.Pro2046Ser) rs1354320725 0.00003
NM_000435.3(NOTCH3):c.1375G>A (p.Ala459Thr) rs370186772 0.00002
NM_000435.3(NOTCH3):c.2432T>C (p.Val811Ala) rs373367879 0.00002
NM_000435.3(NOTCH3):c.319C>T (p.Arg107Trp) rs768965053 0.00002
NM_000435.3(NOTCH3):c.545G>A (p.Arg182His) rs767175703 0.00002
NM_000435.3(NOTCH3):c.6411G>A (p.Leu2137=) rs770123435 0.00002
NM_000435.3(NOTCH3):c.815C>T (p.Thr272Met) rs749561286 0.00002
NM_000435.3(NOTCH3):c.925G>A (p.Glu309Lys) rs1386908989 0.00002
NM_000435.3(NOTCH3):c.1010A>G (p.Tyr337Cys) rs2046925676 0.00001
NM_000435.3(NOTCH3):c.1059C>T (p.Asp353=) rs529200949 0.00001
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His) rs142031490 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.1594C>T (p.Arg532Cys) rs1202763005 0.00001
NM_000435.3(NOTCH3):c.1752C>T (p.Asp584=) rs201207820 0.00001
NM_000435.3(NOTCH3):c.1780G>A (p.Gly594Ser) rs955926125 0.00001
NM_000435.3(NOTCH3):c.1801G>T (p.Val601Leu) rs904239617 0.00001
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303 0.00001
NM_000435.3(NOTCH3):c.1977T>C (p.Asn659=) rs542505184 0.00001
NM_000435.3(NOTCH3):c.2054C>T (p.Pro685Leu) rs768867865 0.00001
NM_000435.3(NOTCH3):c.2091T>C (p.His697=) rs752741204 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.2253C>T (p.Ser751=) rs1039939758 0.00001
NM_000435.3(NOTCH3):c.2645C>G (p.Pro882Arg) rs760472019 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.300C>G (p.Gly100=) rs764852292 0.00001
NM_000435.3(NOTCH3):c.305C>T (p.Ala102Val) rs1487780762 0.00001
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466 0.00001
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys) rs1438626607 0.00001
NM_000435.3(NOTCH3):c.3293C>A (p.Thr1098Asn) rs182238142 0.00001
NM_000435.3(NOTCH3):c.329G>A (p.Arg110His) rs769955930 0.00001
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) rs1266914122 0.00001
NM_000435.3(NOTCH3):c.3858C>T (p.Cys1286=) rs1270546423 0.00001
NM_000435.3(NOTCH3):c.4112G>T (p.Arg1371Leu) rs1177188516 0.00001
NM_000435.3(NOTCH3):c.4406C>G (p.Pro1469Arg) rs779132149 0.00001
NM_000435.3(NOTCH3):c.4974C>T (p.Leu1658=) rs749616364 0.00001
NM_000435.3(NOTCH3):c.5006G>A (p.Arg1669His) rs1184522923 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.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000435.3(NOTCH3):c.553T>C (p.Cys185Arg) rs1568361844 0.00001
NM_000435.3(NOTCH3):c.5617C>T (p.Arg1873Cys) rs749429793 0.00001
NM_000435.3(NOTCH3):c.6025C>T (p.Arg2009Trp) rs151322770 0.00001
NM_000435.3(NOTCH3):c.6101C>G (p.Pro2034Arg) rs751050359 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000435.3(NOTCH3):c.6242G>T (p.Gly2081Val) rs141231747 0.00001
NM_000435.3(NOTCH3):c.6255G>A (p.Thr2085=) rs967649457 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.6522G>C (p.Arg2174=) rs1280248640 0.00001
NM_000435.3(NOTCH3):c.6546C>A (p.Gly2182=) rs765248853 0.00001
NM_000435.3(NOTCH3):c.6665C>T (p.Pro2222Leu) rs1489373939 0.00001
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.1102A>G (p.Thr368Ala) rs1555729115
NM_000435.3(NOTCH3):c.1117G>T (p.Gly373Cys) rs1435305678
NM_000435.3(NOTCH3):c.1135T>G (p.Cys379Gly) rs1555729105
NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) rs863225297
NM_000435.3(NOTCH3):c.1193-10C>T
NM_000435.3(NOTCH3):c.1204T>A (p.Cys402Ser) rs1568360524
NM_000435.3(NOTCH3):c.1216G>T (p.Gly406Cys) rs2046907944
NM_000435.3(NOTCH3):c.1223G>A (p.Cys408Tyr)
NM_000435.3(NOTCH3):c.1241C>G (p.Ser414Cys) rs2145436403
NM_000435.3(NOTCH3):c.1255T>G (p.Cys419Gly) rs1555729070
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000435.3(NOTCH3):c.1261C>T (p.Arg421Cys) rs1555729068
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.1279C>T (p.Arg427Cys) rs1599391536
NM_000435.3(NOTCH3):c.1282T>C (p.Cys428Arg)
NM_000435.3(NOTCH3):c.1283G>A (p.Cys428Tyr) rs1568360455
NM_000435.3(NOTCH3):c.1283G>T (p.Cys428Phe)
NM_000435.3(NOTCH3):c.128G>A (p.Cys43Tyr) rs1555730204
NM_000435.3(NOTCH3):c.128_129delinsAT (p.Cys43Tyr)
NM_000435.3(NOTCH3):c.1293T>C (p.Asp431=) rs2145436227
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.1322G>A (p.Arg441Gln)
NM_000435.3(NOTCH3):c.1337G>T (p.Cys446Phe) rs1568360410
NM_000435.3(NOTCH3):c.1342G>C (p.Asp448His) rs1555729048
NM_000435.3(NOTCH3):c.1363T>A (p.Cys455Ser) rs28933698
NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg) rs28933698
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>G (p.Cys457Gly)
NM_000435.3(NOTCH3):c.1370G>A (p.Cys457Tyr)
NM_000435.3(NOTCH3):c.1375G>C (p.Ala459Pro) rs370186772
NM_000435.3(NOTCH3):c.139A>G (p.Ser47Gly) rs775259883
NM_000435.3(NOTCH3):c.1414G>A (p.Glu472Lys)
NM_000435.3(NOTCH3):c.1426A>T (p.Ser476Cys) rs886054260
NM_000435.3(NOTCH3):c.1433G>A (p.Cys478Tyr) rs1568360142
NM_000435.3(NOTCH3):c.1449C>T (p.Val483=)
NM_000435.3(NOTCH3):c.1450T>A (p.Cys484Ser)
NM_000435.3(NOTCH3):c.1451G>A (p.Cys484Tyr) rs1313319587
NM_000435.3(NOTCH3):c.1451G>T (p.Cys484Phe) rs1313319587
NM_000435.3(NOTCH3):c.145T>C (p.Cys49Arg) rs1555730197
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly) rs1555730197
NM_000435.3(NOTCH3):c.146G>A (p.Cys49Tyr) rs193921045
NM_000435.3(NOTCH3):c.146G>T (p.Cys49Phe) rs193921045
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys) rs2046899820
NM_000435.3(NOTCH3):c.1492+2T>C
NM_000435.3(NOTCH3):c.1531T>A (p.Cys511Ser)
NM_000435.3(NOTCH3):c.1533C>G (p.Cys511Trp)
NM_000435.3(NOTCH3):c.1547G>A (p.Cys516Tyr) rs2046897026
NM_000435.3(NOTCH3):c.1547G>T (p.Cys516Phe) rs2046897026
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
NM_000435.3(NOTCH3):c.1566C>G (p.Cys522Trp)
NM_000435.3(NOTCH3):c.1576C>T (p.Pro526Ser)
NM_000435.3(NOTCH3):c.1597T>C (p.Cys533Arg) rs1555728898
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) rs1555730189
NM_000435.3(NOTCH3):c.161G>A (p.Arg54His) rs754104109
NM_000435.3(NOTCH3):c.1620G>A (p.Thr540=) rs75617410
NM_000435.3(NOTCH3):c.1620G>T (p.Thr540=) rs75617410
NM_000435.3(NOTCH3):c.1621C>A (p.Leu541Met) rs1410670785
NM_000435.3(NOTCH3):c.1624T>C (p.Cys542Arg) rs2145433361
NM_000435.3(NOTCH3):c.1635C>G (p.Asn545Lys)
NM_000435.3(NOTCH3):c.163T>C (p.Cys55Arg) rs1568363980
NM_000435.3(NOTCH3):c.1646G>A (p.Cys549Tyr) rs1555728814
NM_000435.3(NOTCH3):c.1646G>C (p.Cys549Ser)
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) rs1555730188
NM_000435.3(NOTCH3):c.1669G>T (p.Gly557Cys) rs1317994194
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1725G>A (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.1725G>C (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.1736G>A (p.Cys579Tyr) rs2145433000
NM_000435.3(NOTCH3):c.1749G>A (p.Val583=)
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys) rs754554486
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys) rs764148985
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr) rs2046888772
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg) rs1568359346
NM_000435.3(NOTCH3):c.1823G>A (p.Cys608Tyr) rs778350156
NM_000435.3(NOTCH3):c.1840+3G>A rs2046888185
NM_000435.3(NOTCH3):c.1849T>C (p.Cys617Arg) rs2145432499
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr) rs758997426
NM_000435.3(NOTCH3):c.193T>G (p.Cys65Gly) rs1555730177
NM_000435.3(NOTCH3):c.194G>A (p.Cys65Tyr) rs1555730176
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.1957C>A (p.Leu653Ile) rs1336688514
NM_000435.3(NOTCH3):c.1966G>C (p.Val656Leu) rs560752299
NM_000435.3(NOTCH3):c.197+8C>T
NM_000435.3(NOTCH3):c.1999G>T (p.Gly667Cys) rs376046941
NM_000435.3(NOTCH3):c.199T>A (p.Cys67Ser)
NM_000435.3(NOTCH3):c.200G>T (p.Cys67Phe) rs1555729615
NM_000435.3(NOTCH3):c.2011T>A (p.Ser671Thr)
NM_000435.3(NOTCH3):c.2071C>A (p.Leu691Ile)
NM_000435.3(NOTCH3):c.212_229dup (p.Cys76_Gln77insArgValGlyGluArgCys) rs2145443744
NM_000435.3(NOTCH3):c.213G>C (p.Trp71Cys)
NM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys) rs28937321
NM_000435.3(NOTCH3):c.2163G>A (p.Glu721=) rs375173938
NM_000435.3(NOTCH3):c.2169C>G (p.Gly723=) rs771519821
NM_000435.3(NOTCH3):c.218G>T (p.Gly73Val)
NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro) rs145069047
NM_000435.3(NOTCH3):c.226T>A (p.Cys76Ser) rs1555729610
NM_000435.3(NOTCH3):c.226T>C (p.Cys76Arg) rs1555729610
NM_000435.3(NOTCH3):c.227G>A (p.Cys76Tyr) rs1568362252
NM_000435.3(NOTCH3):c.231G>C (p.Gln77His) rs1438944422
NM_000435.3(NOTCH3):c.244T>C (p.Cys82Arg) rs2046937845
NM_000435.3(NOTCH3):c.244T>G (p.Cys82Gly) rs2046937845
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) rs1023306013
NM_000435.3(NOTCH3):c.2539G>A (p.Asp847Asn)
NM_000435.3(NOTCH3):c.259T>C (p.Cys87Arg) rs1568362232
NM_000435.3(NOTCH3):c.2657G>A (p.Arg886His) rs1275201697
NM_000435.3(NOTCH3):c.2660A>C (p.Asp887Ala)
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys) rs1555729604
NM_000435.3(NOTCH3):c.2717C>T (p.Ala906Val) rs754997329
NM_000435.3(NOTCH3):c.2739G>A (p.Pro913=) rs763718957
NM_000435.3(NOTCH3):c.2741_2742delinsAG (p.Pro914Gln) rs2145423971
NM_000435.3(NOTCH3):c.2749G>A (p.Gly917Arg) rs150338460
NM_000435.3(NOTCH3):c.2773C>G (p.Leu925Val) rs184033385
NM_000435.3(NOTCH3):c.278G>A (p.Cys93Tyr)
NM_000435.3(NOTCH3):c.2793-8C>A rs960266832
NM_000435.3(NOTCH3):c.2798G>T (p.Cys933Phe)
NM_000435.3(NOTCH3):c.2827G>T (p.Val943Leu) rs764894150
NM_000435.3(NOTCH3):c.2879A>T (p.Gln960Leu)
NM_000435.3(NOTCH3):c.2905C>T (p.Arg969Trp)
NM_000435.3(NOTCH3):c.2951T>G (p.Phe984Cys) rs995523352
NM_000435.3(NOTCH3):c.2953C>T (p.Arg985Cys) rs1188569102
NM_000435.3(NOTCH3):c.2956T>G (p.Cys986Gly) rs763321998
NM_000435.3(NOTCH3):c.2989T>G (p.Cys997Gly) rs1555727960
NM_000435.3(NOTCH3):c.2996C>T (p.Thr999Met)
NM_000435.3(NOTCH3):c.3011G>A (p.Cys1004Tyr) rs1555727944
NM_000435.3(NOTCH3):c.3016C>T (p.Arg1006Cys) rs1555727942
NM_000435.3(NOTCH3):c.3026G>A (p.Cys1009Tyr) rs1217205469
NM_000435.3(NOTCH3):c.3040C>T (p.Arg1014Cys) rs376682593
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.3044G>T (p.Cys1015Phe)
NM_000435.3(NOTCH3):c.3064T>A (p.Cys1022Ser) rs2046833026
NM_000435.3(NOTCH3):c.3065G>T (p.Cys1022Phe) rs1555727930
NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys) rs1285584068
NM_000435.3(NOTCH3):c.3130G>T (p.Ala1044Ser) rs767672719
NM_000435.3(NOTCH3):c.316T>A (p.Cys106Ser)
NM_000435.3(NOTCH3):c.316T>C (p.Cys106Arg) rs1555729589
NM_000435.3(NOTCH3):c.3172G>T (p.Gly1058Cys)
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr) rs1064794216
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.323G>A (p.Cys108Tyr) rs1555729584
NM_000435.3(NOTCH3):c.323G>T (p.Cys108Phe) rs1555729584
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.3298C>T (p.Arg1100Cys)
NM_000435.3(NOTCH3):c.3409T>C (p.Cys1137Arg) rs2145418962
NM_000435.3(NOTCH3):c.341-2A>G rs2046935672
NM_000435.3(NOTCH3):c.3472G>A (p.Glu1158Lys)
NM_000435.3(NOTCH3):c.349T>C (p.Cys117Arg) rs1555729554
NM_000435.3(NOTCH3):c.349T>G (p.Cys117Gly) rs1555729554
NM_000435.3(NOTCH3):c.3504A>T (p.Pro1168=) rs1218422734
NM_000435.3(NOTCH3):c.350G>A (p.Cys117Tyr) rs773539041
NM_000435.3(NOTCH3):c.350G>T (p.Cys117Phe) rs773539041
NM_000435.3(NOTCH3):c.351C>G (p.Cys117Trp) rs200881673
NM_000435.3(NOTCH3):c.3524G>C (p.Arg1175Pro) rs752282553
NM_000435.3(NOTCH3):c.353C>G (p.Ser118Cys) rs1469620436
NM_000435.3(NOTCH3):c.3571T>C (p.Cys1191Arg)
NM_000435.3(NOTCH3):c.3628C>T (p.Arg1210Cys)
NM_000435.3(NOTCH3):c.363T>A (p.Asp121Glu) rs2046935214
NM_000435.3(NOTCH3):c.368G>T (p.Cys123Phe) rs2046935167
NM_000435.3(NOTCH3):c.3696C>G (p.Cys1232Trp)
NM_000435.3(NOTCH3):c.3757_3758delinsAG (p.Gln1253Arg) rs2046814637
NM_000435.3(NOTCH3):c.3783C>G (p.Cys1261Trp)
NM_000435.3(NOTCH3):c.3829_3835del (p.Cys1277fs)
NM_000435.3(NOTCH3):c.3837+10G>T rs1555727565
NM_000435.3(NOTCH3):c.383G>T (p.Cys128Phe) rs1568362039
NM_000435.3(NOTCH3):c.3865del (p.Val1289fs) rs2046807565
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser) rs767150916
NM_000435.3(NOTCH3):c.3925C>T (p.Arg1309Cys) rs1402176902
NM_000435.3(NOTCH3):c.3970T>A (p.Cys1324Ser)
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.3983C>T (p.Pro1328Leu) rs1239435396
NM_000435.3(NOTCH3):c.4004_4006dup (p.Ser1335dup) rs1555727412
NM_000435.3(NOTCH3):c.4029del (p.Cys1344fs)
NM_000435.3(NOTCH3):c.4039G>C (p.Gly1347Arg) rs1344432803
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) rs1174625611
NM_000435.3(NOTCH3):c.427C>T (p.Leu143Phe) rs772201554
NM_000435.3(NOTCH3):c.430T>C (p.Cys144Arg) rs2046934287
NM_000435.3(NOTCH3):c.431G>A (p.Cys144Tyr) rs1568361985
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) rs1236699193
NM_000435.3(NOTCH3):c.437G>T (p.Cys146Phe) rs1236699193
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.4521G>A (p.Leu1507=)
NM_000435.3(NOTCH3):c.4528C>T (p.Arg1510Cys) rs763870059
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000435.3(NOTCH3):c.4627C>A (p.Leu1543Met) rs111838442
NM_000435.3(NOTCH3):c.4637G>A (p.Arg1546His)
NM_000435.3(NOTCH3):c.4737-7C>G
NM_000435.3(NOTCH3):c.485G>T (p.Cys162Phe) rs2145441996
NM_000435.3(NOTCH3):c.4869G>C (p.Pro1623=) rs148574670
NM_000435.3(NOTCH3):c.4944_4945dup (p.Ala1649fs) rs2046723155
NM_000435.3(NOTCH3):c.5000G>A (p.Arg1667His)
NM_000435.3(NOTCH3):c.5014A>T (p.Ser1672Cys)
NM_000435.3(NOTCH3):c.502T>A (p.Cys168Ser)
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.512_605delinsA (p.Gly171_Ala202delinsGlu) rs2046931882
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.520T>C (p.Cys174Arg) rs1599394806
NM_000435.3(NOTCH3):c.521G>A (p.Cys174Tyr) rs1555729486
NM_000435.3(NOTCH3):c.521G>T (p.Cys174Phe) rs1555729486
NM_000435.3(NOTCH3):c.5285T>C (p.Val1762Ala) rs750747488
NM_000435.3(NOTCH3):c.530C>T (p.Thr177Ile) rs919800459
NM_000435.3(NOTCH3):c.5315A>C (p.Gln1772Pro) rs1555725846
NM_000435.3(NOTCH3):c.548G>A (p.Cys183Tyr) rs1568361851
NM_000435.3(NOTCH3):c.548G>T (p.Cys183Phe) rs1568361851
NM_000435.3(NOTCH3):c.553T>G (p.Cys185Gly) rs1568361844
NM_000435.3(NOTCH3):c.554G>A (p.Cys185Tyr) rs1555729477
NM_000435.3(NOTCH3):c.554G>T (p.Cys185Phe) rs1555729477
NM_000435.3(NOTCH3):c.5668-9C>G rs375464998
NM_000435.3(NOTCH3):c.566A>G (p.Tyr189Cys) rs2145441610
NM_000435.3(NOTCH3):c.5738C>T (p.Ala1913Val)
NM_000435.3(NOTCH3):c.5798A>G (p.Asn1933Ser)
NM_000435.3(NOTCH3):c.580T>A (p.Cys194Ser) rs1568361818
NM_000435.3(NOTCH3):c.580T>C (p.Cys194Arg) rs1568361818
NM_000435.3(NOTCH3):c.581G>A (p.Cys194Tyr) rs2145441541
NM_000435.3(NOTCH3):c.581G>T (p.Cys194Phe) rs2145441541
NM_000435.3(NOTCH3):c.583G>A (p.Glu195Lys) rs1599394696
NM_000435.3(NOTCH3):c.5901G>A (p.Met1967Ile) rs373866355
NM_000435.3(NOTCH3):c.5990A>G (p.Asn1997Ser)
NM_000435.3(NOTCH3):c.6016A>T (p.Arg2006Trp) rs375674115
NM_000435.3(NOTCH3):c.602G>A (p.Cys201Tyr) rs1555729468
NM_000435.3(NOTCH3):c.602G>C (p.Cys201Ser) rs1555729468
NM_000435.3(NOTCH3):c.602G>T (p.Cys201Phe) rs1555729468
NM_000435.3(NOTCH3):c.6030C>T (p.Asp2010=) rs767028544
NM_000435.3(NOTCH3):c.6035C>G (p.Ala2012Gly)
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.6241G>A (p.Gly2081Ser)
NM_000435.3(NOTCH3):c.6276G>A (p.Leu2092=)
NM_000435.3(NOTCH3):c.6294G>T (p.Thr2098=) rs558864862
NM_000435.3(NOTCH3):c.634T>A (p.Cys212Ser) rs1555729455
NM_000435.3(NOTCH3):c.6378C>T (p.Pro2126=)
NM_000435.3(NOTCH3):c.6446G>A (p.Gly2149Glu)
NM_000435.3(NOTCH3):c.6463G>C (p.Gly2155Arg)
NM_000435.3(NOTCH3):c.6505C>T (p.Pro2169Ser)
NM_000435.3(NOTCH3):c.6538C>A (p.Pro2180Thr)
NM_000435.3(NOTCH3):c.664T>C (p.Cys222Arg)
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.3(NOTCH3):c.665G>C (p.Cys222Ser)
NM_000435.3(NOTCH3):c.6681C>G (p.His2227Gln) rs1366113655
NM_000435.3(NOTCH3):c.6694A>G (p.Lys2232Glu)
NM_000435.3(NOTCH3):c.671G>A (p.Cys224Tyr) rs1555729451
NM_000435.3(NOTCH3):c.6726C>T (p.His2242=)
NM_000435.3(NOTCH3):c.6786C>T (p.Ser2262=) rs1378552176
NM_000435.3(NOTCH3):c.6850A>T (p.Thr2284Ser) rs1177268940
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr) rs1599394351
NM_000435.3(NOTCH3):c.724G>C (p.Gly242Arg)
NM_000435.3(NOTCH3):c.740A>G (p.Asn247Ser)
NM_000435.3(NOTCH3):c.741T>G (p.Asn247Lys) rs1555729409
NM_000435.3(NOTCH3):c.751T>C (p.Cys251Arg) rs1568361608
NM_000435.3(NOTCH3):c.752G>A (p.Cys251Tyr) rs1555729405
NM_000435.3(NOTCH3):c.770C>T (p.Thr257Ile)
NM_000435.3(NOTCH3):c.773A>G (p.Tyr258Cys) rs947976672
NM_000435.3(NOTCH3):c.779G>T (p.Cys260Phe) rs2046928618
NM_000435.3(NOTCH3):c.798G>T (p.Trp266Cys) rs2046928465
NM_000435.3(NOTCH3):c.811T>C (p.Cys271Arg) rs2046927630
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr) rs1568361404
NM_000435.3(NOTCH3):c.954T>G (p.Cys318Trp) rs2145439818
NM_000435.3(NOTCH3):c.955_956delinsTG (p.Ala319Cys) rs2145439810
NM_000435.3(NOTCH3):c.968G>A (p.Cys323Tyr)
NM_000435.3(NOTCH3):c.976G>A (p.Gly326Arg)
NM_000435.3(NOTCH3):c.986G>A (p.Cys329Tyr) rs2046925963
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) rs137852641

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.