ClinVar Miner

List of variants in gene NOTCH3 reported as likely benign for not specified

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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093 0.00784
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.1607-5C>A rs372869012 0.00081
NM_000435.3(NOTCH3):c.5200-4C>A rs375036447 0.00035
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys) rs369813654 0.00031
NM_000435.3(NOTCH3):c.3428G>A (p.Arg1143His) rs144559574 0.00021
NM_000435.3(NOTCH3):c.2437G>A (p.Glu813Lys) rs375873637 0.00020
NM_000435.3(NOTCH3):c.181C>T (p.Arg61Trp) rs200595885 0.00015
NM_000435.3(NOTCH3):c.4455C>T (p.Asp1485=) rs552265898 0.00014
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942 0.00012
NM_000435.3(NOTCH3):c.5124C>T (p.Ala1708=) rs149766864 0.00011
NM_000435.3(NOTCH3):c.3639C>T (p.Ala1213=) rs374239471 0.00009
NM_000435.3(NOTCH3):c.624C>T (p.Asn208=) rs368179321 0.00009
NM_000435.3(NOTCH3):c.4404C>T (p.Asn1468=) rs145425679 0.00007
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189 0.00006
NM_000435.3(NOTCH3):c.1578C>G (p.Pro526=) rs775208731 0.00006
NM_000435.3(NOTCH3):c.1920C>T (p.Arg640=) rs140818133 0.00006
NM_000435.3(NOTCH3):c.2070A>G (p.Pro690=) rs370780913 0.00006
NM_000435.3(NOTCH3):c.2282C>T (p.Pro761Leu) rs150866973 0.00006
NM_000435.3(NOTCH3):c.472G>A (p.Asp158Asn) rs544773641 0.00006
NM_000435.3(NOTCH3):c.1678G>A (p.Val560Met) rs200160665 0.00004
NM_000435.3(NOTCH3):c.223C>T (p.Arg75Trp) rs762164861 0.00004
NM_000435.3(NOTCH3):c.2296+8C>T rs375460301 0.00004
NM_000435.3(NOTCH3):c.4875A>C (p.Pro1625=) rs538466132 0.00004
NM_000435.3(NOTCH3):c.1966G>A (p.Val656Met) rs560752299 0.00003
NM_000435.3(NOTCH3):c.5265G>A (p.Leu1755=) rs1021237220 0.00003
NM_000435.3(NOTCH3):c.6411G>A (p.Leu2137=) rs770123435 0.00002
NM_000435.3(NOTCH3):c.1494C>T (p.Gly498=) rs142762020 0.00001
NM_000435.3(NOTCH3):c.1840+19G>A rs886038298 0.00001
NM_000435.3(NOTCH3):c.2091T>C (p.His697=) rs752741204 0.00001
NM_000435.3(NOTCH3):c.300C>G (p.Gly100=) rs764852292 0.00001
NM_000435.3(NOTCH3):c.4974C>T (p.Leu1658=) rs749616364 0.00001
NM_000435.3(NOTCH3):c.6522G>C (p.Arg2174=) rs1280248640 0.00001
NM_000435.3(NOTCH3):c.6546C>A (p.Gly2182=) rs765248853 0.00001
NM_000435.3(NOTCH3):c.1293T>C (p.Asp431=) rs2145436227
NM_000435.3(NOTCH3):c.1620G>A (p.Thr540=) rs75617410
NM_000435.3(NOTCH3):c.2169C>G (p.Gly723=) rs771519821
NM_000435.3(NOTCH3):c.3504A>T (p.Pro1168=) rs1218422734
NM_000435.3(NOTCH3):c.4736+23G>C rs1599374263
NM_000435.3(NOTCH3):c.5154C>T (p.Ala1718=)

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