ClinVar Miner

List of variants in gene QRICH1 reported as likely pathogenic for syndromic intellectual disability

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198880.3(QRICH1):c.1147del (p.Leu383fs)
NM_198880.3(QRICH1):c.1180C>G (p.His394Asp) rs2106903855
NM_198880.3(QRICH1):c.1234del (p.Thr412fs)
NM_198880.3(QRICH1):c.1453T>G (p.Trp485Gly)
NM_198880.3(QRICH1):c.1579G>A (p.Gly527Arg) rs2106863254
NM_198880.3(QRICH1):c.1649A>G (p.Tyr550Cys) rs2106862882
NM_198880.3(QRICH1):c.1655del (p.Phe552fs) rs2106862871
NM_198880.3(QRICH1):c.1720T>G (p.Tyr574Asp) rs2106855069
NM_198880.3(QRICH1):c.1786+1G>A rs2106854800
NM_198880.3(QRICH1):c.1807G>T (p.Val603Leu) rs2093252866
NM_198880.3(QRICH1):c.1884C>G (p.Phe628Leu) rs2106813640
NM_198880.3(QRICH1):c.2159G>A (p.Arg720Gln)
NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn) rs2093229974
NM_198880.3(QRICH1):c.2280_2281del (p.Ile760fs)
NM_198880.3(QRICH1):c.292C>T (p.Gln98Ter)
NM_198880.3(QRICH1):c.625C>T (p.Gln209Ter)
NM_198880.3(QRICH1):c.68C>T (p.Pro23Leu) rs2106983539
NM_198880.3(QRICH1):c.756G>T (p.Met252Ile) rs2106905658
NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu) rs2093408453
NM_198880.3(QRICH1):c.914dup (p.Gly306fs) rs2106905056
NM_198880.3(QRICH1):c.961del (p.Asp321fs) rs2106904870
NM_198880.3:c.309+9376_1339-2808dup

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.