ClinVar Miner

List of variants in gene SRCAP reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006662.3(SRCAP):c.6901del (p.Glu2301fs) rs2151299633
NM_006662.3(SRCAP):c.6985C>T (p.Arg2329Ter) rs1555465891
NM_006662.3(SRCAP):c.7096_7102del (p.Ala2366fs) rs1555465917
NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter)
NM_006662.3(SRCAP):c.7255C>T (p.Gln2419Ter) rs1555465928
NM_006662.3(SRCAP):c.7262dup (p.Ser2422fs)
NM_006662.3(SRCAP):c.7275_7276del (p.Pro2426fs) rs1596667741
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006662.3(SRCAP):c.7394del (p.Pro2465fs) rs2151300144
NM_006662.3(SRCAP):c.7727C>A (p.Ser2576Ter) rs1555465966
NM_006662.3(SRCAP):c.8242C>T (p.Arg2748Ter) rs1085307899
NM_006662.3(SRCAP):c.833del (p.Pro278fs) rs886041787
NM_006662.3(SRCAP):c.8427T>A (p.Cys2809Ter) rs1596669232

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.