ClinVar Miner

List of variants in gene NOTCH2 reported as benign by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.7341T>A (p.Gly2447=) rs6685892 0.17147
NM_024408.4(NOTCH2):c.4305G>A (p.Arg1435=) rs6692009 0.01225
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=) rs34561092 0.00733
NM_024408.4(NOTCH2):c.7075C>G (p.Pro2359Ala) rs75831573 0.00493
NM_024408.4(NOTCH2):c.3980A>G (p.Asp1327Gly) rs61752484 0.00477
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val) rs35656321 0.00266
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770 0.00258
NM_024408.4(NOTCH2):c.3519C>T (p.Cys1173=) rs115325955 0.00245
NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=) rs61734328 0.00241
NM_024408.4(NOTCH2):c.6094C>A (p.His2032Asn) rs143236410 0.00131
NM_024408.4(NOTCH2):c.6479A>G (p.Tyr2160Cys) rs35216058 0.00111
NM_024408.4(NOTCH2):c.2042T>A (p.Ile681Asn) rs74882029 0.00026
NM_024408.4(NOTCH2):c.1315G>A (p.Ala439Thr) rs199565938 0.00008
NM_024408.4(NOTCH2):c.6924G>A (p.Gln2308=) rs376191548 0.00002
NM_024408.4(NOTCH2):c.2026+6G>T rs587731563 0.00001

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.