ClinVar Miner

List of variants reported as pathogenic by Section for Clinical Neurogenetics, University of Tübingen

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
NM_005186.4(CAPN1):c.1605+5G>A rs375817528 0.00012
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689 0.00001
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs) rs312262759 0.00001
NM_133443.4(GPT2):c.70C>T (p.Gln24Ter) rs1437184398 0.00001
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213 0.00001
NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559
NM_000156.6(GAMT):c.491del (p.Gly164fs) rs749390953
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_001098.3(ACO2):c.336C>G (p.Ser112Arg) rs786200924
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001122769.3(LCA5):c.1062_1068del (p.Cys353_Tyr354insTer) rs1769845495
NM_001256864.2(DNAJC6):c.801-2A>G rs398122404
NM_001368809.2(AMPD2):c.333del (p.Gln112fs) rs1650621772
NM_003632.3(CNTNAP1):c.2015G>A (p.Trp672Ter) rs1567973091
NM_004562.3(PRKN):c.101del (p.Gln34fs) rs748142049
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_016373.4(WWOX):c.1114G>C (p.Gly372Arg) rs587777127
NM_020843.4(SCAPER):c.2023-2A>G rs1555558169

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.