ClinVar Miner

List of variants studied for Joubert syndrome by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly) rs201662623 0.00021
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287 0.00011
NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro) rs150433582 0.00004
NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp) rs370676288 0.00002
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) rs750247691 0.00002
NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys) rs753432312 0.00001
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg) rs780265931 0.00001
NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter) rs1885329722
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp) rs368448387
NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter) rs1463041654
NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys) rs759684383
NM_001308120.2(TOGARAM1):c.5182C>T (p.Arg1728Ter) rs745704336
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser) rs759799287
NM_001352754.2(ARMC9):c.1474+1G>C rs1114167448
NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu) rs1114167449
NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter) rs372770167
NM_001352754.2(ARMC9):c.51+5G>T rs1114167447
NM_025139.4(ARMC9):c.1211_1334del
Single allele

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.