ClinVar Miner

List of variants in gene NOTCH3 reported as uncertain significance by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.4071C>T (p.Pro1357=) rs542856470 0.00118
NM_000435.3(NOTCH3):c.6532C>T (p.Pro2178Ser) rs751951476 0.00059
NM_000435.3(NOTCH3):c.4639C>G (p.Leu1547Val) rs150037063 0.00043
NM_000435.3(NOTCH3):c.*306C>T rs181930934 0.00036
NM_000435.3(NOTCH3):c.*517C>T rs532350128 0.00030
NM_000435.3(NOTCH3):c.*717C>G rs3087938 0.00029
NM_000435.3(NOTCH3):c.2738C>T (p.Pro913Leu) rs370422650 0.00019
NM_000435.3(NOTCH3):c.2831A>G (p.Asn944Ser) rs754545176 0.00019
NM_000435.3(NOTCH3):c.*656T>C rs754043656 0.00009
NM_000435.3(NOTCH3):c.283A>C (p.Ser95Arg) rs777645491 0.00009
NM_000435.3(NOTCH3):c.6239G>A (p.Arg2080Gln) rs759896413 0.00009
NM_000435.3(NOTCH3):c.*382T>G rs886054250 0.00008
NM_000435.3(NOTCH3):c.-57G>A rs1193874164 0.00007
NM_000435.3(NOTCH3):c.6619C>T (p.Arg2207Trp) rs753170185 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.1036+10C>T rs776962888 0.00004
NM_000435.3(NOTCH3):c.3120C>T (p.Cys1040=) rs372688320 0.00004
NM_000435.3(NOTCH3):c.6334G>A (p.Gly2112Ser) rs372833545 0.00004
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.2589G>A (p.Ser863=) rs530503488 0.00003
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=) rs149222385 0.00003
NM_000435.3(NOTCH3):c.5646C>T (p.Ala1882=) rs758307531 0.00003
NM_000435.3(NOTCH3):c.6111C>T (p.His2037=) rs764620593 0.00003
NM_000435.3(NOTCH3):c.6209C>T (p.Ala2070Val) rs763603215 0.00003
NM_000435.3(NOTCH3):c.6603C>T (p.Pro2201=) rs200415679 0.00003
NM_000435.3(NOTCH3):c.1375G>A (p.Ala459Thr) rs370186772 0.00002
NM_000435.3(NOTCH3):c.2051C>T (p.Pro684Leu) rs770737365 0.00002
NM_000435.3(NOTCH3):c.2519G>A (p.Gly840Glu) rs771561644 0.00002
NM_000435.3(NOTCH3):c.438C>T (p.Cys146=) rs774042167 0.00002
NM_000435.3(NOTCH3):c.5396G>A (p.Cys1799Tyr) rs1336048311 0.00002
NM_000435.3(NOTCH3):c.6174G>A (p.Ser2058=) rs1304790357 0.00002
NM_000435.3(NOTCH3):c.*279C>T rs2046630018 0.00001
NM_000435.3(NOTCH3):c.*608C>T rs577953923 0.00001
NM_000435.3(NOTCH3):c.-47C>G rs886054262 0.00001
NM_000435.3(NOTCH3):c.1334C>T (p.Thr445Met) rs1446147181 0.00001
NM_000435.3(NOTCH3):c.1649C>T (p.Ser550Phe) rs1210611177 0.00001
NM_000435.3(NOTCH3):c.2329C>T (p.Pro777Ser) rs886054259 0.00001
NM_000435.3(NOTCH3):c.4444G>C (p.Gly1482Arg) rs202085803 0.00001
NM_000435.3(NOTCH3):c.5137C>T (p.Leu1713=) rs1339687395 0.00001
NM_000435.3(NOTCH3):c.5336G>A (p.Gly1779Asp) rs771041592 0.00001
NM_000435.3(NOTCH3):c.5501G>A (p.Arg1834Gln) rs202027632 0.00001
NM_000435.3(NOTCH3):c.5548G>A (p.Ala1850Thr) rs756939819 0.00001
NM_000435.3(NOTCH3):c.5705G>A (p.Arg1902His) rs755817475 0.00001
NM_000435.3(NOTCH3):c.6166G>A (p.Ala2056Thr) rs556851818 0.00001
NM_000435.3(NOTCH3):c.6325C>T (p.Arg2109Trp) rs199995195 0.00001
NM_000435.3(NOTCH3):c.6429A>G (p.Pro2143=) rs890365920 0.00001
NM_000435.3(NOTCH3):c.6770G>A (p.Ser2257Asn) rs779247987 0.00001
NM_000435.3(NOTCH3):c.708C>T (p.Asn236=) rs766045217 0.00001
NM_000435.3(NOTCH3):c.*354_*355dup rs59869411
NM_000435.3(NOTCH3):c.1192+14C>T rs761651631
NM_000435.3(NOTCH3):c.120C>T (p.Ala40=) rs146904189
NM_000435.3(NOTCH3):c.139A>G (p.Ser47Gly) rs775259883
NM_000435.3(NOTCH3):c.1426A>T (p.Ser476Cys) rs886054260
NM_000435.3(NOTCH3):c.15C>T (p.Ala5=) rs2047007824
NM_000435.3(NOTCH3):c.2082C>G (p.Pro694=) rs751758366
NM_000435.3(NOTCH3):c.2793-14T>C rs886054258
NM_000435.3(NOTCH3):c.2900T>C (p.Leu967Pro) rs1384597990
NM_000435.3(NOTCH3):c.2906G>A (p.Arg969Gln) rs146214060
NM_000435.3(NOTCH3):c.2T>A (p.Met1Lys) rs2047007942
NM_000435.3(NOTCH3):c.3230C>T (p.Thr1077Ile) rs775809529
NM_000435.3(NOTCH3):c.3256G>A (p.Asp1086Asn) rs781765705
NM_000435.3(NOTCH3):c.3751G>C (p.Glu1251Gln) rs369213011
NM_000435.3(NOTCH3):c.3921G>C (p.Thr1307=) rs886054257
NM_000435.3(NOTCH3):c.3930G>T (p.Gly1310=) rs1459394189
NM_000435.3(NOTCH3):c.3964C>T (p.Pro1322Ser) rs1438155304
NM_000435.3(NOTCH3):c.4039G>C (p.Gly1347Arg) rs1344432803
NM_000435.3(NOTCH3):c.4092G>A (p.Ala1364=) rs886054256
NM_000435.3(NOTCH3):c.4426G>A (p.Ala1476Thr) rs886054255
NM_000435.3(NOTCH3):c.4427C>T (p.Ala1476Val) rs886054254
NM_000435.3(NOTCH3):c.5363-5T>G rs2046683567
NM_000435.3(NOTCH3):c.5375C>T (p.Pro1792Leu) rs1250718112
NM_000435.3(NOTCH3):c.5684G>A (p.Arg1895His) rs369768722
NM_000435.3(NOTCH3):c.5789C>T (p.Ala1930Val) rs886054253
NM_000435.3(NOTCH3):c.5926C>T (p.Leu1976=) rs2046645523
NM_000435.3(NOTCH3):c.5952C>T (p.Ser1984=) rs773935272
NM_000435.3(NOTCH3):c.63G>A (p.Pro21=) rs2047007301
NM_000435.3(NOTCH3):c.6506C>G (p.Pro2169Arg) rs886054252
NM_000435.3(NOTCH3):c.6913A>G (p.Thr2305Ala) rs2046632682
NM_000435.3(NOTCH3):c.874T>G (p.Phe292Val) rs886054261

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