ClinVar Miner

List of variants in gene SACS reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_014363.6(SACS):c.8972G>A (p.Arg2991His) rs192610957 0.00084
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00019
NM_014363.6(SACS):c.11048A>G (p.Asn3683Ser) rs138609508 0.00014
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys) rs201798841 0.00011
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691 0.00009
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505 0.00007
NM_014363.6(SACS):c.432G>T (p.Trp144Cys) rs368570790 0.00006
NM_014363.6(SACS):c.12367A>G (p.Met4123Val) rs772068772 0.00004
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys) rs762896797 0.00004
NM_014363.6(SACS):c.10415A>G (p.Asp3472Gly) rs759801095 0.00001
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148 0.00001
NM_014363.6(SACS):c.5932G>A (p.Val1978Ile) rs373812430 0.00001
NM_014363.6(SACS):c.7742C>T (p.Ala2581Val) rs866333277 0.00001
NM_014363.6(SACS):c.8166G>T (p.Met2722Ile) rs1327898921 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu) rs144179865
NM_014363.6(SACS):c.10372C>T (p.His3458Tyr) rs756117709
NM_014363.6(SACS):c.12952T>C (p.Trp4318Arg) rs762499265
NM_014363.6(SACS):c.13231G>A (p.Glu4411Lys) rs1883408216
NM_014363.6(SACS):c.2021G>T (p.Gly674Val) rs770199696
NM_014363.6(SACS):c.2374G>C (p.Glu792Gln)
NM_014363.6(SACS):c.3292C>T (p.Leu1098Phe) rs1593132851
NM_014363.6(SACS):c.3700T>A (p.Trp1234Arg) rs1192682879
NM_014363.6(SACS):c.370G>T (p.Ala124Ser)
NM_014363.6(SACS):c.3853T>G (p.Cys1285Gly) rs2137632086
NM_014363.6(SACS):c.3881C>T (p.Pro1294Leu) rs1593132075
NM_014363.6(SACS):c.4349G>T (p.Gly1450Val)
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile) rs775069857
NM_014363.6(SACS):c.5304_5306del (p.His1769del) rs1555252136
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg) rs758570844
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile) rs758570844
NM_014363.6(SACS):c.5786G>A (p.Arg1929Gln)
NM_014363.6(SACS):c.7940T>A (p.Ile2647Asn) rs934642310
NM_014363.6(SACS):c.7990G>A (p.Gly2664Arg) rs2137595708
NM_014363.6(SACS):c.847A>G (p.Ser283Gly)
NM_014363.6(SACS):c.8495T>C (p.Val2832Ala) rs1593126225
NM_014363.6(SACS):c.8729A>G (p.Asn2910Ser) rs2137589975
NM_014363.6(SACS):c.9043A>G (p.Ile3015Val) rs768103747
NM_014363.6(SACS):c.9412T>G (p.Tyr3138Asp) rs1208382588
NM_014363.6(SACS):c.9463C>T (p.Leu3155Phe)

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.