ClinVar Miner

Variants in gene NOTCH3 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1402 333 0 187 98 0 57 315

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 68 35 0 2
likely pathogenic 68 0 29 0 2
uncertain significance 35 29 0 92 21
likely benign 0 0 92 0 119
benign 2 2 21 119 0

All variants with conflicting interpretations #

Total variants: 315
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=) rs16980398 0.11455
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.09838
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met) rs10408676 0.08167
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=) rs1044008 0.03162
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=) rs61749020 0.02545
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu) rs114447350 0.02512
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217 0.01566
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=) rs114887570 0.01539
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745 0.01423
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799 0.01273
NM_000435.3(NOTCH3):c.1782C>T (p.Gly594=) rs35793356 0.01231
NM_000435.3(NOTCH3):c.*23T>A rs73504084 0.00989
NM_000435.3(NOTCH3):c.2566+24G>T rs151276393 0.00824
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00811
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093 0.00784
NM_000435.3(NOTCH3):c.197+24C>G rs188132716 0.00778
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045 0.00755
NM_000435.3(NOTCH3):c.1952-23G>A rs147014533 0.00739
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu) rs55882518 0.00433
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403 0.00417
NM_000435.3(NOTCH3):c.3719-11C>T rs78907190 0.00398
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=) rs140040122 0.00306
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00300
NM_000435.3(NOTCH3):c.2411-4C>G rs190177286 0.00295
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile) rs34338511 0.00222
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511 0.00217
NM_000435.3(NOTCH3):c.2175T>C (p.Ser725=) rs141993521 0.00214
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His) rs75291244 0.00200
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.660C>T (p.Tyr220=) rs114457076 0.00114
NM_000435.3(NOTCH3):c.4071C>T (p.Pro1357=) rs542856470 0.00113
NM_000435.3(NOTCH3):c.4737-19C>T rs180755159 0.00098
NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=) rs141346023 0.00076
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012 0.00074
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.6532C>T (p.Pro2178Ser) rs751951476 0.00059
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00049
NM_000435.3(NOTCH3):c.945C>T (p.Ile315=) rs116239440 0.00044
NM_000435.3(NOTCH3):c.2411-11C>A rs201130717 0.00043
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val) rs150037063 0.00043
NM_000435.3(NOTCH3):c.5992C>T (p.Arg1998Cys) rs201105335 0.00042
NM_000435.3(NOTCH3):c.3629G>A (p.Arg1210His) rs35031555 0.00041
NM_000435.3(NOTCH3):c.4858C>T (p.Leu1620=) rs144401090 0.00041
NM_000435.3(NOTCH3):c.1194C>T (p.Gly398=) rs140368657 0.00036
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.*3C>T rs202157455 0.00030
NM_000435.3(NOTCH3):c.3523C>T (p.Arg1175Trp) rs200504060 0.00028
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys) rs369813654 0.00028
NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg) rs141956294 0.00027
NM_000435.3(NOTCH3):c.3170C>T (p.Ala1057Val) rs368146879 0.00026
NM_000435.3(NOTCH3):c.884T>G (p.Leu295Arg) rs143117018 0.00026
NM_000435.3(NOTCH3):c.2183G>A (p.Arg728His) rs144935367 0.00024
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.6504G>C (p.Val2168=) rs546608637 0.00022
NM_000435.3(NOTCH3):c.850G>A (p.Ala284Thr) rs149307620 0.00022
NM_000435.3(NOTCH3):c.340+14A>G rs202136001 0.00021
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.5114+10C>G rs369547319 0.00019
NM_000435.3(NOTCH3):c.499C>T (p.Pro167Ser) rs202157633 0.00018
NM_000435.3(NOTCH3):c.3299G>A (p.Arg1100His) rs189545202 0.00016
NM_000435.3(NOTCH3):c.3328-8C>A rs200360207 0.00016
NM_000435.3(NOTCH3):c.5895G>A (p.Lys1965=) rs140567100 0.00016
NM_000435.3(NOTCH3):c.4455C>T (p.Asp1485=) rs552265898 0.00014
NM_000435.3(NOTCH3):c.6611C>T (p.Pro2204Leu) rs371738874 0.00014
NM_000435.3(NOTCH3):c.1690G>A (p.Ala564Thr) rs374767079 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.135C>T (p.Asp45=) rs370177269 0.00012
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser) rs764148985 0.00012
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942 0.00012
NM_000435.3(NOTCH3):c.1919G>A (p.Arg640His) rs377689004 0.00011
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166 0.00011
NM_000435.3(NOTCH3):c.4348G>A (p.Ala1450Thr) rs201082692 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.3758A>C (p.Gln1253Pro) rs749611934 0.00010
NM_000435.3(NOTCH3):c.4046C>T (p.Ser1349Phe) rs937871148 0.00010
NM_000435.3(NOTCH3):c.5284G>A (p.Val1762Met) rs756495084 0.00010
NM_000435.3(NOTCH3):c.1607-14T>C rs202062771 0.00009
NM_000435.3(NOTCH3):c.1641C>T (p.Asp547=) rs202039658 0.00009
NM_000435.3(NOTCH3):c.1854A>G (p.Glu618=) rs150438748 0.00009
NM_000435.3(NOTCH3):c.4053C>T (p.Arg1351=) rs927758025 0.00009
NM_000435.3(NOTCH3):c.5323G>A (p.Ala1775Thr) rs139983430 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.6569C>T (p.Ala2190Val) rs528151296 0.00009
NM_000435.3(NOTCH3):c.2995-6C>T rs552141058 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.5376G>A (p.Pro1792=) rs374875084 0.00008
NM_000435.3(NOTCH3):c.1469G>C (p.Gly490Ala) rs374248747 0.00007
NM_000435.3(NOTCH3):c.269G>A (p.Arg90His) rs754726425 0.00007
NM_000435.3(NOTCH3):c.3575C>T (p.Thr1192Ile) rs150811543 0.00007
NM_000435.3(NOTCH3):c.3659G>A (p.Arg1220Gln) rs370233852 0.00007
NM_000435.3(NOTCH3):c.4404C>T (p.Asn1468=) rs145425679 0.00007
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp) rs367707092 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.709G>A (p.Val237Met) rs2285981 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.1466A>G (p.Asn489Ser) rs376728138 0.00006
NM_000435.3(NOTCH3):c.1840+8C>T rs372100017 0.00006
NM_000435.3(NOTCH3):c.359C>T (p.Pro120Leu) rs778715118 0.00006
NM_000435.3(NOTCH3):c.5937C>T (p.Ala1979=) rs570392715 0.00006
NM_000435.3(NOTCH3):c.5943C>T (p.Arg1981=) rs747804178 0.00006
NM_000435.3(NOTCH3):c.6010C>T (p.Leu2004=) rs370927186 0.00006
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp) rs753170185 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.118+19G>T rs533017601 0.00005
NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met) rs564452430 0.00005
NM_000435.3(NOTCH3):c.1973T>C (p.Ile658Thr) rs779379912 0.00005
NM_000435.3(NOTCH3):c.2000G>A (p.Gly667Asp) rs370386680 0.00005
NM_000435.3(NOTCH3):c.2282C>T (p.Pro761Leu) rs150866973 0.00005
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=) rs200881673 0.00005
NM_000435.3(NOTCH3):c.432C>T (p.Cys144=) rs748339634 0.00005
NM_000435.3(NOTCH3):c.472G>A (p.Asp158Asn) rs544773641 0.00005
NM_000435.3(NOTCH3):c.5704C>T (p.Arg1902Cys) rs576516079 0.00005
NM_000435.3(NOTCH3):c.591C>T (p.Pro197=) rs367943979 0.00005
NM_000435.3(NOTCH3):c.6233G>A (p.Arg2078Gln) rs765403158 0.00005
NM_000435.3(NOTCH3):c.963C>T (p.Ala321=) rs538938551 0.00005
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met) rs200160665 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.3566T>C (p.Phe1189Ser) rs764617561 0.00004
NM_000435.3(NOTCH3):c.3806G>T (p.Gly1269Val) rs781401262 0.00004
NM_000435.3(NOTCH3):c.4793A>T (p.Asp1598Val) rs201167365 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.5569C>T (p.Arg1857Trp) rs752169336 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.6324G>A (p.Pro2108=) rs776858941 0.00004
NM_000435.3(NOTCH3):c.6334G>A (p.Gly2112Ser) rs372833545 0.00004
NM_000435.3(NOTCH3):c.6437C>T (p.Ala2146Val) rs770739669 0.00004
NM_000435.3(NOTCH3):c.825G>A (p.Val275=) rs138837495 0.00004
NM_000435.3(NOTCH3):c.1651C>T (p.Pro551Ser) rs761209435 0.00003
NM_000435.3(NOTCH3):c.1729A>G (p.Thr577Ala) rs368181126 0.00003
NM_000435.3(NOTCH3):c.1749G>A (p.Val583=) rs373985781 0.00003
NM_000435.3(NOTCH3):c.1873G>A (p.Ala625Thr) rs747633377 0.00003
NM_000435.3(NOTCH3):c.204G>A (p.Pro68=) rs772468516 0.00003
NM_000435.3(NOTCH3):c.223C>T (p.Arg75Trp) rs762164861 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.506G>A (p.Arg169His) rs774607018 0.00003
NM_000435.3(NOTCH3):c.5646C>T (p.Ala1882=) rs758307531 0.00003
NM_000435.3(NOTCH3):c.815C>T (p.Thr272Met) rs749561286 0.00003
NM_000435.3(NOTCH3):c.1375G>A (p.Ala459Thr) rs370186772 0.00002
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 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.3725G>A (p.Arg1242His) rs146149484 0.00002
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp) rs557113034 0.00002
NM_000435.3(NOTCH3):c.545G>A (p.Arg182His) rs767175703 0.00002
NM_000435.3(NOTCH3):c.5779G>A (p.Ala1927Thr) rs748889237 0.00002
NM_000435.3(NOTCH3):c.6325C>T (p.Arg2109Trp) rs199995195 0.00002
NM_000435.3(NOTCH3):c.1059C>T (p.Asp353=) rs529200949 0.00001
NM_000435.3(NOTCH3):c.1121G>A (p.Arg374Gln) rs768208563 0.00001
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032 0.00001
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys) rs2046899820 0.00001
NM_000435.3(NOTCH3):c.1494C>T (p.Gly498=) rs142762020 0.00001
NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys) rs1202763005 0.00001
NM_000435.3(NOTCH3):c.1635C>T (p.Asn545=) rs763667541 0.00001
NM_000435.3(NOTCH3):c.1783G>A (p.Gly595Ser) rs770146452 0.00001
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303 0.00001
NM_000435.3(NOTCH3):c.197+8C>T rs1216276758 0.00001
NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys) rs1250956327 0.00001
NM_000435.3(NOTCH3):c.2053C>A (p.Pro685Thr) rs774900511 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.2353C>T (p.Arg785Cys) rs1289281166 0.00001
NM_000435.3(NOTCH3):c.2645C>G (p.Pro882Arg) rs760472019 0.00001
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466 0.00001
NM_000435.3(NOTCH3):c.3148C>T (p.Arg1050Trp) rs371525707 0.00001
NM_000435.3(NOTCH3):c.3206A>G (p.Tyr1069Cys) rs1438064001 0.00001
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys) rs1438626607 0.00001
NM_000435.3(NOTCH3):c.3298C>T (p.Arg1100Cys) rs963416165 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.3696C>G (p.Cys1232Trp) rs1376921184 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000435.3(NOTCH3):c.5552G>A (p.Arg1851His) rs1238520484 0.00001
NM_000435.3(NOTCH3):c.5942G>A (p.Arg1981His) rs771678721 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000435.3(NOTCH3):c.6255G>A (p.Thr2085=) rs967649457 0.00001
NM_000435.3(NOTCH3):c.6654C>T (p.Gly2218=) rs528209250 0.00001
NM_000435.3(NOTCH3):c.900C>T (p.Cys300=) rs749319462 0.00001
NM_000435.3(NOTCH3):c.1019G>A (p.Cys340Tyr)
NM_000435.3(NOTCH3):c.1044G>A (p.Leu348=) rs201033294
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.1144G>T (p.Gly382Cys) rs2145437046
NM_000435.3(NOTCH3):c.1204T>A (p.Cys402Ser) rs1568360524
NM_000435.3(NOTCH3):c.120C>T (p.Ala40=) rs146904189
NM_000435.3(NOTCH3):c.1255T>C (p.Cys419Arg)
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.1304G>A (p.Cys435Tyr) rs2145436195
NM_000435.3(NOTCH3):c.1305T>G (p.Cys435Trp) rs2046907170
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys) rs762734007
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.1369T>C (p.Cys457Arg) rs2512661018
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly) rs1555730197
NM_000435.3(NOTCH3):c.1512T>G (p.Cys504Trp) rs2046897516
NM_000435.3(NOTCH3):c.1527C>T (p.Asp509=)
NM_000435.3(NOTCH3):c.1531T>A (p.Cys511Ser) rs2046897246
NM_000435.3(NOTCH3):c.1531T>C (p.Cys511Arg)
NM_000435.3(NOTCH3):c.1532G>A (p.Cys511Tyr) rs2046897213
NM_000435.3(NOTCH3):c.1547G>T (p.Cys516Phe) rs2046897026
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser) rs2046896882
NM_000435.3(NOTCH3):c.1566C>G (p.Cys522Trp) rs1193624610
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) rs1555730189
NM_000435.3(NOTCH3):c.1620G>T (p.Thr540=) rs75617410
NM_000435.3(NOTCH3):c.1625G>A (p.Cys542Tyr) rs2512658095
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) rs1555730188
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1725G>C (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.1756T>C (p.Cys586Arg) rs2512657590
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.1790G>C (p.Cys597Ser) rs2046888772
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg) rs1568359346
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.1903C>T (p.Arg635Cys) rs753801611
NM_000435.3(NOTCH3):c.194G>A (p.Cys65Tyr) rs1555730176
NM_000435.3(NOTCH3):c.1952-11G>T rs1422424368
NM_000435.3(NOTCH3):c.1999G>T (p.Gly667Cys) rs376046941
NM_000435.3(NOTCH3):c.200G>T (p.Cys67Phe) rs1555729615
NM_000435.3(NOTCH3):c.2052G>A (p.Pro684=) rs141399324
NM_000435.3(NOTCH3):c.208G>T (p.Gly70Cys) rs1379608507
NM_000435.3(NOTCH3):c.212_229dup (p.Cys76_Gln77insArgValGlyGluArgCys) rs2145443744
NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro) rs145069047
NM_000435.3(NOTCH3):c.2394C>A (p.Cys798Ter) rs1426280102
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly) rs1599395616
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.2557T>C (p.Cys853Arg) rs1568357588
NM_000435.3(NOTCH3):c.260G>A (p.Cys87Tyr)
NM_000435.3(NOTCH3):c.2752G>T (p.Gly918Cys) rs1358592529
NM_000435.3(NOTCH3):c.2791A>T (p.Ser931Cys) rs2145423783
NM_000435.3(NOTCH3):c.2926G>A (p.Val976Ile) rs771899820
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>C (p.Cys986Arg) rs763321998
NM_000435.3(NOTCH3):c.3009G>C (p.Trp1003Cys) rs1241704923
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) rs1555727938
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.3172G>T (p.Gly1058Cys) rs2512644040
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr) rs1064794216
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.3409T>C (p.Cys1137Arg) rs2145418962
NM_000435.3(NOTCH3):c.349T>G (p.Cys117Gly) rs1555729554
NM_000435.3(NOTCH3):c.3719-4T>C
NM_000435.3(NOTCH3):c.3838C>A (p.Pro1280Thr) rs958354298
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.3944G>A (p.Cys1315Tyr) rs1432396805
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.3980_3983dup (p.Gly1329fs)
NM_000435.3(NOTCH3):c.402C>G (p.Cys134Trp)
NM_000435.3(NOTCH3):c.4039G>C (p.Gly1347Arg) rs1344432803
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.449A>G (p.Tyr150Cys) rs2145442191
NM_000435.3(NOTCH3):c.4627C>A (p.Leu1543Met) rs111838442
NM_000435.3(NOTCH3):c.484T>A (p.Cys162Ser)
NM_000435.3(NOTCH3):c.4899G>A (p.Pro1633=) rs200797732
NM_000435.3(NOTCH3):c.503G>A (p.Cys168Tyr) rs2145441901
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.520T>C (p.Cys174Arg) rs1599394806
NM_000435.3(NOTCH3):c.548G>T (p.Cys183Phe) rs1568361851
NM_000435.3(NOTCH3):c.554G>T (p.Cys185Phe) rs1555729477
NM_000435.3(NOTCH3):c.5668-9C>G rs375464998
NM_000435.3(NOTCH3):c.601T>G (p.Cys201Gly) rs1599394654
NM_000435.3(NOTCH3):c.602G>A (p.Cys201Tyr) rs1555729468
NM_000435.3(NOTCH3):c.6091C>T (p.Arg2031Cys)
NM_000435.3(NOTCH3):c.6097C>G (p.Pro2033Ala) rs375213868
NM_000435.3(NOTCH3):c.6102dup (p.Gly2035fs) rs771517374
NM_000435.3(NOTCH3):c.6201dup (p.Gly2068fs) rs760917811
NM_000435.3(NOTCH3):c.634T>A (p.Cys212Ser) rs1555729455
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs) rs2512609739
NM_000435.3(NOTCH3):c.6464G>A (p.Gly2155Glu)
NM_000435.3(NOTCH3):c.6511G>A (p.Asp2171Asn)
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.3(NOTCH3):c.6850A>T (p.Thr2284Ser) rs1177268940
NM_000435.3(NOTCH3):c.698G>A (p.Cys233Tyr) rs2145440883
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr) rs1599394351
NM_000435.3(NOTCH3):c.733T>A (p.Cys245Ser)
NM_000435.3(NOTCH3):c.773A>G (p.Tyr258Cys) rs947976672
NM_000435.3(NOTCH3):c.865G>T (p.Gly289Cys) rs1253499013
NM_000435.3(NOTCH3):c.895A>T (p.Ser299Cys) rs2046926886
NM_000435.3(NOTCH3):c.8C>T (p.Pro3Leu)
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr) rs1568361404
NM_000435.3(NOTCH3):c.986G>A (p.Cys329Tyr) rs2046925963

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.