ClinVar Miner

List of variants in gene NOTCH3 reported by Preventiongenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=) rs1044006 0.90693
NM_000435.3(NOTCH3):c.5362+3T>C rs1548555 0.90675
NM_000435.3(NOTCH3):c.5816-8T>C rs4809030 0.90632
NM_000435.3(NOTCH3):c.5363-17C>T rs2074619 0.90508
NM_000435.3(NOTCH3):c.1192+15A>G rs10423702 0.87325
NM_000435.3(NOTCH3):c.606A>G (p.Ala202=) rs1043994 0.87319
NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=) rs1043997 0.76937
NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val) rs1044009 0.69087
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.5526T>C (p.Ala1842=) rs16980398 0.12317
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.6438G>A (p.Ala2146=) rs1044008 0.03162
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.1782C>T (p.Gly594=) rs35793356 0.01231
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.5400G>T (p.Gly1800=) rs34480308 0.00591
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403 0.00417
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.2300G>A (p.Arg767His) rs75291244 0.00213
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.6031G>A (p.Val2011Ile) rs142007575 0.00011
NM_000435.3(NOTCH3):c.3639C>T (p.Ala1213=) rs374239471 0.00009
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189 0.00006
NM_000435.3(NOTCH3):c.754G>A (p.Val252Met) rs115836330 0.00006
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys) rs769773673 0.00004
NM_000435.3(NOTCH3):c.1840+19G>A rs886038298 0.00001
NM_000435.3(NOTCH3):c.3083G>C (p.Trp1028Ser) rs146829488 0.00001
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.1759C>T (p.Arg587Cys) rs754554486
NM_000435.3(NOTCH3):c.2129A>G (p.Tyr710Cys)
NM_000435.3(NOTCH3):c.3011G>A (p.Cys1004Tyr) rs1555727944
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.476T>C (p.Val159Ala)
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.5115-12_5137del
NM_000435.3(NOTCH3):c.521G>A (p.Cys174Tyr) rs1555729486
NM_000435.3(NOTCH3):c.5485G>T (p.Ala1829Ser)
NM_000435.3(NOTCH3):c.548G>T (p.Cys183Phe) rs1568361851
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.3(NOTCH3):c.773A>G (p.Tyr258Cys) rs947976672
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) rs137852641

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