ClinVar Miner

List of variants in gene NOTCH3 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 166
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217 0.01566
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.3704A>T (p.His1235Leu) rs55882518 0.00433
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=) rs140040122 0.00306
NM_000435.3(NOTCH3):c.2411-4C>G rs190177286 0.00295
NM_000435.3(NOTCH3):c.5370C>T (p.Phe1790=) rs35887416 0.00287
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511 0.00217
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_000435.3(NOTCH3):c.3314G>C (p.Gly1105Ala) rs143764521 0.00158
NM_000435.3(NOTCH3):c.4071C>T (p.Pro1357=) rs542856470 0.00118
NM_000435.3(NOTCH3):c.660C>T (p.Tyr220=) rs114457076 0.00091
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.6532C>T (p.Pro2178Ser) rs751951476 0.00059
NM_000435.3(NOTCH3):c.945C>T (p.Ile315=) rs116239440 0.00048
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val) rs150037063 0.00043
NM_000435.3(NOTCH3):c.2580C>T (p.Asn860=) rs201436750 0.00035
NM_000435.3(NOTCH3):c.964G>A (p.Val322Met) rs115029695 0.00025
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.831G>A (p.Glu277=) rs145049433 0.00021
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650 0.00019
NM_000435.3(NOTCH3):c.5466C>T (p.Ser1822=) rs148053028 0.00019
NM_000435.3(NOTCH3):c.3328-8C>A rs200360207 0.00017
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476 0.00013
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942 0.00012
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.3758A>C (p.Gln1253Pro) rs749611934 0.00010
NM_000435.3(NOTCH3):c.4725C>A (p.Pro1575=) rs374042078 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.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.4404C>T (p.Asn1468=) rs145425679 0.00007
NM_000435.3(NOTCH3):c.2070A>G (p.Pro690=) rs370780913 0.00006
NM_000435.3(NOTCH3):c.2358C>T (p.Cys786=) rs754220821 0.00006
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp) rs367707092 0.00006
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp) rs753170185 0.00006
NM_000435.3(NOTCH3):c.771C>A (p.Thr257=) rs373744631 0.00006
NM_000435.3(NOTCH3):c.822C>T (p.Asp274=) rs755998957 0.00006
NM_000435.3(NOTCH3):c.1567G>A (p.Val523Met) rs564452430 0.00005
NM_000435.3(NOTCH3):c.4413C>T (p.Tyr1471=) rs920286007 0.00005
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165 0.00005
NM_000435.3(NOTCH3):c.4806C>T (p.Pro1602=) rs578082632 0.00005
NM_000435.3(NOTCH3):c.5739G>A (p.Ala1913=) rs776548752 0.00005
NM_000435.3(NOTCH3):c.1724C>T (p.Thr575Met) rs371176740 0.00004
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 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.3806G>T (p.Gly1269Val) rs781401262 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.963C>T (p.Ala321=) rs538938551 0.00004
NM_000435.3(NOTCH3):c.5202A>G (p.Val1734=) rs750943761 0.00003
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.2748C>T (p.Tyr916=) rs769605032 0.00002
NM_000435.3(NOTCH3):c.6411G>A (p.Leu2137=) rs770123435 0.00002
NM_000435.3(NOTCH3):c.1593C>T (p.Cys531=) rs1273411247 0.00001
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303 0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101 0.00001
NM_000435.3(NOTCH3):c.2225C>T (p.Pro742Leu) rs780152379 0.00001
NM_000435.3(NOTCH3):c.3057G>A (p.Gly1019=) rs780520770 0.00001
NM_000435.3(NOTCH3):c.3171G>A (p.Ala1057=) rs569728292 0.00001
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys) rs1438626607 0.00001
NM_000435.3(NOTCH3):c.3344A>G (p.Asn1115Ser) rs1399228829 0.00001
NM_000435.3(NOTCH3):c.3919A>G (p.Thr1307Ala) rs1331244525 0.00001
NM_000435.3(NOTCH3):c.4839G>A (p.Ala1613=) rs766735679 0.00001
NM_000435.3(NOTCH3):c.5088C>T (p.Pro1696=) rs760075953 0.00001
NM_000435.3(NOTCH3):c.5203G>A (p.Glu1735Lys) rs959827952 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000435.3(NOTCH3):c.5617C>T (p.Arg1873Cys) rs749429793 0.00001
NM_000435.3(NOTCH3):c.5779G>A (p.Ala1927Thr) rs748889237 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000435.3(NOTCH3):c.6254C>T (p.Thr2085Met) rs1199803741 0.00001
NM_000435.3(NOTCH3):c.6510C>T (p.Leu2170=) rs754442174 0.00001
NM_000435.3(NOTCH3):c.6924G>A (p.Gly2308=) rs753654158 0.00001
NM_000435.3(NOTCH3):c.772T>C (p.Tyr258His) rs887378958 0.00001
NM_000435.3(NOTCH3):c.*286_*288del
NM_000435.3(NOTCH3):c.1121G>A (p.Arg374Gln)
NM_000435.3(NOTCH3):c.1182G>T (p.Glu394Asp)
NM_000435.3(NOTCH3):c.1432T>A (p.Cys478Ser) rs2046900264
NM_000435.3(NOTCH3):c.1532G>A (p.Cys511Tyr) rs2046897213
NM_000435.3(NOTCH3):c.1534G>A (p.Ala512Thr)
NM_000435.3(NOTCH3):c.1582G>T (p.Gly528Cys)
NM_000435.3(NOTCH3):c.1606+6G>T
NM_000435.3(NOTCH3):c.1725G>A (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.1749G>A (p.Val583=)
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys) rs764148985
NM_000435.3(NOTCH3):c.1775G>T (p.Arg592Leu) rs763115768
NM_000435.3(NOTCH3):c.1790G>A (p.Cys597Tyr) rs2046888772
NM_000435.3(NOTCH3):c.1808A>G (p.Lys603Arg) rs1057519102
NM_000435.3(NOTCH3):c.1866C>T (p.Asp622=)
NM_000435.3(NOTCH3):c.1867G>A (p.Asp623Asn)
NM_000435.3(NOTCH3):c.1903C>T (p.Arg635Cys) rs753801611
NM_000435.3(NOTCH3):c.1965C>T (p.Asn655=)
NM_000435.3(NOTCH3):c.2052G>A (p.Pro684=)
NM_000435.3(NOTCH3):c.2085G>C (p.Pro695=) rs758126818
NM_000435.3(NOTCH3):c.2228G>A (p.Cys743Tyr)
NM_000435.3(NOTCH3):c.2507C>A (p.Thr836Asn) rs34338511
NM_000435.3(NOTCH3):c.265G>T (p.Gly89Cys)
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys) rs1555729604
NM_000435.3(NOTCH3):c.2694G>A (p.Pro898=)
NM_000435.3(NOTCH3):c.2847G>A (p.Leu949=)
NM_000435.3(NOTCH3):c.2856C>A (p.Pro952=) rs968392255
NM_000435.3(NOTCH3):c.2970_2971delinsTT (p.Glu990_Ser991delinsAspCys) rs2145422649
NM_000435.3(NOTCH3):c.3044G>A (p.Cys1015Tyr) rs1555727938
NM_000435.3(NOTCH3):c.3148C>T (p.Arg1050Trp)
NM_000435.3(NOTCH3):c.318C>G (p.Cys106Trp) rs774698706
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.3298C>T (p.Arg1100Cys)
NM_000435.3(NOTCH3):c.3353A>T (p.Asn1118Ile)
NM_000435.3(NOTCH3):c.3363C>T (p.Asp1121=)
NM_000435.3(NOTCH3):c.3542C>T (p.Thr1181Ile) rs1216306549
NM_000435.3(NOTCH3):c.369C>T (p.Cys123=) rs1599395213
NM_000435.3(NOTCH3):c.376A>T (p.Ser126Cys) rs1555729534
NM_000435.3(NOTCH3):c.3837+3A>G
NM_000435.3(NOTCH3):c.3878G>T (p.Cys1293Phe) rs2046807371
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser) rs767150916
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.4038C>T (p.His1346=) rs1555727404
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) rs1174625611
NM_000435.3(NOTCH3):c.4347_4350dup (p.Cys1451fs) rs2145414374
NM_000435.3(NOTCH3):c.449A>G (p.Tyr150Cys)
NM_000435.3(NOTCH3):c.4534G>C (p.Val1512Leu)
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000435.3(NOTCH3):c.4650C>T (p.His1550=)
NM_000435.3(NOTCH3):c.4679G>A (p.Arg1560Gln)
NM_000435.3(NOTCH3):c.484T>C (p.Cys162Arg) rs2145441998
NM_000435.3(NOTCH3):c.4869G>C (p.Pro1623=) rs148574670
NM_000435.3(NOTCH3):c.4880G>T (p.Arg1627Leu) rs1407627346
NM_000435.3(NOTCH3):c.4884C>T (p.Asp1628=)
NM_000435.3(NOTCH3):c.5015G>A (p.Ser1672Asn) rs2046722168
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.506G>A (p.Arg169His)
NM_000435.3(NOTCH3):c.520T>A (p.Cys174Ser) rs1599394806
NM_000435.3(NOTCH3):c.521G>A (p.Cys174Tyr) rs1555729486
NM_000435.3(NOTCH3):c.547T>C (p.Cys183Arg) rs2145441707
NM_000435.3(NOTCH3):c.5552G>A (p.Arg1851His)
NM_000435.3(NOTCH3):c.5601C>T (p.Ala1867=)
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.5817G>A (p.Gly1939=)
NM_000435.3(NOTCH3):c.581G>T (p.Cys194Phe) rs2145441541
NM_000435.3(NOTCH3):c.592G>A (p.Ala198Thr)
NM_000435.3(NOTCH3):c.6102C>G (p.Pro2034=) rs114887570
NM_000435.3(NOTCH3):c.6219G>A (p.Gly2073=)
NM_000435.3(NOTCH3):c.6264C>T (p.Cys2088=)
NM_000435.3(NOTCH3):c.6288G>T (p.Ser2096=) rs780963644
NM_000435.3(NOTCH3):c.63G>A (p.Pro21=) rs2047007301
NM_000435.3(NOTCH3):c.6679C>T (p.His2227Tyr) rs779441679
NM_000435.3(NOTCH3):c.6709C>T (p.Arg2237Trp)
NM_000435.3(NOTCH3):c.6850A>T (p.Thr2284Ser) rs1177268940
NM_000435.3(NOTCH3):c.6905A>G (p.Gln2302Arg)
NM_000435.3(NOTCH3):c.924C>T (p.Gly308=) rs1043995
NM_000435.3(NOTCH3):c.932G>A (p.Cys311Tyr)
NM_000435.3(NOTCH3):c.932G>T (p.Cys311Phe) rs1555729346
NM_000435.3(NOTCH3):c.967T>A (p.Cys323Ser) rs2145439777

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