ClinVar Miner

List of variants in gene NOTCH1 reported as likely benign by Center for Human Genetics, Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 57
Download table as spreadsheet
HGVS dbSNP
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293
NM_017617.5(NOTCH1):c.1669+13G>A rs147260092
NM_017617.5(NOTCH1):c.1670-18G>A rs375041394
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=) rs760548976
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His) rs138504021
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445
NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=)
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048
NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=) rs200573958
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=) rs369346436
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) rs201662530
NM_017617.5(NOTCH1):c.2354-14C>A
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134
NM_017617.5(NOTCH1):c.2640C>T (p.His880=) rs374946182
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu)
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546
NM_017617.5(NOTCH1):c.3326-11A>C rs377648586
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His)
NM_017617.5(NOTCH1):c.3901+10G>A rs561404862
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=) rs200664704
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=) rs766737406
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=) rs775105774
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=) rs370523171
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=) rs371365065
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5168-5C>T rs757370134
NM_017617.5(NOTCH1):c.5472+19G>C rs755674060
NM_017617.5(NOTCH1):c.5724C>G (p.Ala1908=) rs555773558
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=)
NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile) rs1022510242
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg) rs201613894
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=) rs372771288
NM_017617.5(NOTCH1):c.6758C>T (p.Pro2253Leu) rs1204397173
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112
NM_017617.5(NOTCH1):c.7229C>T (p.Pro2410Leu) rs560981171
NM_017617.5(NOTCH1):c.7232_7234CAC[4] (p.Pro2415del) rs762336270
NM_017617.5(NOTCH1):c.7232_7234CAC[6] (p.Pro2415dup) rs762336270
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=) rs746111102

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.