ClinVar Miner

List of variants in gene DIAPH1 reported as benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.1461+20G>A rs2302103 0.67950
NM_005219.5(DIAPH1):c.117+14C>T rs2074913 0.05773
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=) rs34296458 0.03749
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=) rs2302102 0.02275
NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=) rs35755269 0.00955
NM_005219.5(DIAPH1):c.621-19T>C rs181224861 0.00828
NM_005219.5(DIAPH1):c.1045-20T>A rs75686999 0.00527
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys) rs143763573 0.00356
NM_005219.5(DIAPH1):c.891G>A (p.Pro297=) rs116463365 0.00354
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159 0.00222
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) rs200735096 0.00207
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser) rs186370335 0.00030
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526 0.00018
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306 0.00013
NM_005219.5(DIAPH1):c.117+8T>A rs548327056 0.00009
NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=) rs200506473 0.00006
NM_005219.5(DIAPH1):c.3662-17C>T rs371640300 0.00004
NM_005219.5(DIAPH1):c.117+9C>T rs528279050 0.00003
NM_005219.5(DIAPH1):c.65G>A (p.Ser22Asn) rs1474809251 0.00002
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro) rs200220260 0.00001
NM_005219.5(DIAPH1):c.145-12dup rs1311979036
NM_005219.5(DIAPH1):c.1462-7dup rs1289998659
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.2483-10del
NM_005219.5(DIAPH1):c.3149-25_3149-14dup rs79558427
NM_005219.5(DIAPH1):c.3149-25_3149-15dup rs79558427
NM_005219.5(DIAPH1):c.402+12del rs555848272
NM_005219.5(DIAPH1):c.685-8_685-6del rs773403319

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.