ClinVar Miner

List of variants in gene NOTCH3 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 229
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166 0.00011
NM_000435.3(NOTCH3):c.1500C>T (p.Ser500=) rs146055867 0.00008
NM_000435.3(NOTCH3):c.1505C>T (p.Ser502Phe) rs778571943 0.00007
NM_000435.3(NOTCH3):c.4404C>T (p.Asn1468=) rs145425679 0.00007
NM_000435.3(NOTCH3):c.2358C>T (p.Cys786=) rs754220821 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.6164C>T (p.Ala2055Val) rs769066713 0.00006
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165 0.00005
NM_000435.3(NOTCH3):c.1277C>T (p.Pro426Leu) rs756516988 0.00004
NM_000435.3(NOTCH3):c.1724C>T (p.Thr575Met) rs371176740 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.3806G>T (p.Gly1269Val) rs781401262 0.00004
NM_000435.3(NOTCH3):c.5551C>T (p.Arg1851Cys) rs376590511 0.00004
NM_000435.3(NOTCH3):c.715G>A (p.Asp239Asn) rs761407832 0.00004
NM_000435.3(NOTCH3):c.143C>T (p.Pro48Leu) rs1362111590 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.3305A>T (p.Tyr1102Phe) rs148838056 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.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.154G>A (p.Gly52Arg) rs148166997 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.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.3552C>G (p.Asp1184Glu) rs763112778 0.00001
NM_000435.3(NOTCH3):c.3718+6C>T rs545768883 0.00001
NM_000435.3(NOTCH3):c.4381G>A (p.Gly1461Ser) rs1309726793 0.00001
NM_000435.3(NOTCH3):c.467G>A (p.Arg156Gln) rs142492710 0.00001
NM_000435.3(NOTCH3):c.5164A>G (p.Met1722Val) rs1307548749 0.00001
NM_000435.3(NOTCH3):c.625G>A (p.Gly209Arg) rs776600631 0.00001
NM_000435.3(NOTCH3):c.6440G>A (p.Gly2147Asp) rs897705605 0.00001
NM_000435.3(NOTCH3):c.6701G>A (p.Arg2234His) rs750631177 0.00001
NM_000435.3(NOTCH3):c.730C>T (p.Arg244Ter) rs2046929318 0.00001
NC_000019.9:g.(?_15284859)_(15311716_?)dup
NM_000435.3(NOTCH3):c.1000G>C (p.Ala334Pro)
NM_000435.3(NOTCH3):c.1024A>G (p.Met342Val)
NM_000435.3(NOTCH3):c.1053G>A (p.Leu351=)
NM_000435.3(NOTCH3):c.1066G>A (p.Val356Ile) rs1599392135
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.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.1195G>A (p.Ala399Thr) rs1390414547
NM_000435.3(NOTCH3):c.1223G>T (p.Cys408Phe)
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.1321C>G (p.Arg441Gly)
NM_000435.3(NOTCH3):c.1327C>T (p.Gln443Ter)
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.1369T>C (p.Cys457Arg)
NM_000435.3(NOTCH3):c.1385C>T (p.Thr462Ile)
NM_000435.3(NOTCH3):c.1490C>G (p.Ser497Trp)
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.1619C>G (p.Thr540Arg)
NM_000435.3(NOTCH3):c.1621C>A (p.Leu541Met) rs1410670785
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.1756T>C (p.Cys586Arg)
NM_000435.3(NOTCH3):c.1797C>G (p.Asp599Glu)
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.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.1999G>T (p.Gly667Cys) rs376046941
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.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.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.2341G>A (p.Glu781Lys) rs2145428734
NM_000435.3(NOTCH3):c.2394C>A (p.Cys798Ter)
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly) rs1599395616
NM_000435.3(NOTCH3):c.2467C>A (p.His823Asn)
NM_000435.3(NOTCH3):c.2525C>G (p.Thr842Ser) rs1215184250
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.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_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.2762G>A (p.Cys921Tyr)
NM_000435.3(NOTCH3):c.2793-2A>G
NM_000435.3(NOTCH3):c.2857G>T (p.Gly953Cys)
NM_000435.3(NOTCH3):c.289G>A (p.Val97Met)
NM_000435.3(NOTCH3):c.2918A>C (p.His973Pro)
NM_000435.3(NOTCH3):c.2956T>C (p.Cys986Arg)
NM_000435.3(NOTCH3):c.2962T>C (p.Cys988Arg) rs2145422681
NM_000435.3(NOTCH3):c.29G>A (p.Arg10His)
NM_000435.3(NOTCH3):c.304G>T (p.Ala102Ser)
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.3107G>A (p.Arg1036Gln)
NM_000435.3(NOTCH3):c.313T>C (p.Ser105Pro)
NM_000435.3(NOTCH3):c.3206A>G (p.Tyr1069Cys) rs1438064001
NM_000435.3(NOTCH3):c.341-32_341-21del
NM_000435.3(NOTCH3):c.3425C>T (p.Ala1142Val)
NM_000435.3(NOTCH3):c.3548T>C (p.Val1183Ala)
NM_000435.3(NOTCH3):c.3589T>C (p.Tyr1197His)
NM_000435.3(NOTCH3):c.3628C>G (p.Arg1210Gly)
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.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.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.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.4025C>T (p.Ala1342Val)
NM_000435.3(NOTCH3):c.4029_4030del (p.Cys1344fs)
NM_000435.3(NOTCH3):c.4431C>A (p.Asp1477Glu)
NM_000435.3(NOTCH3):c.4534G>A (p.Val1512Met)
NM_000435.3(NOTCH3):c.458G>A (p.Arg153His)
NM_000435.3(NOTCH3):c.4648C>G (p.His1550Asp)
NM_000435.3(NOTCH3):c.4676A>G (p.His1559Arg) rs2145408576
NM_000435.3(NOTCH3):c.4798T>A (p.Cys1600Ser) rs2046726978
NM_000435.3(NOTCH3):c.4806C>A (p.Pro1602=) rs578082632
NM_000435.3(NOTCH3):c.4864T>C (p.Phe1622Leu)
NM_000435.3(NOTCH3):c.5005C>G (p.Arg1669Gly)
NM_000435.3(NOTCH3):c.5089G>T (p.Val1697Leu)
NM_000435.3(NOTCH3):c.531_532delinsTT (p.Pro178Ser) rs2145441756
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.5603A>G (p.Gln1868Arg) rs2145391979
NM_000435.3(NOTCH3):c.5704C>T (p.Arg1902Cys)
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.589C>T (p.Pro197Ser)
NM_000435.3(NOTCH3):c.5902C>T (p.Gln1968Ter)
NM_000435.3(NOTCH3):c.5993G>A (p.Arg1998His) rs2046644859
NM_000435.3(NOTCH3):c.6043A>G (p.Arg2015Gly) rs2046644200
NM_000435.3(NOTCH3):c.605_606inv (p.Ala202Val)
NM_000435.3(NOTCH3):c.6097C>A (p.Pro2033Thr) rs375213868
NM_000435.3(NOTCH3):c.6102dup (p.Gly2035fs)
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.6260C>G (p.Ala2087Gly) rs2145382342
NM_000435.3(NOTCH3):c.6269del (p.Gly2090fs) rs1011713833
NM_000435.3(NOTCH3):c.6287C>T (p.Ser2096Leu)
NM_000435.3(NOTCH3):c.6323C>T (p.Pro2108Leu)
NM_000435.3(NOTCH3):c.6379T>A (p.Tyr2127Asn)
NM_000435.3(NOTCH3):c.6409C>G (p.Leu2137Val) rs2046639059
NM_000435.3(NOTCH3):c.6454C>G (p.Pro2152Ala) rs2145381350
NM_000435.3(NOTCH3):c.6536C>T (p.Ala2179Val)
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.6705_6730del (p.Phe2235fs) rs2145380263
NM_000435.3(NOTCH3):c.6710G>T (p.Arg2237Leu) rs537601286
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.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.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.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.924C>T (p.Gly308=) rs1043995
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr) rs1568361404

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