ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive cerebellar ataxia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.*349G>A rs113041399 0.00729
NM_020247.5(COQ8A):c.291C>T (p.Ser97=) rs111529228 0.00567
NM_021830.5(TWNK):c.-650A>G rs187213541 0.00454
NM_021830.5(TWNK):c.*301C>T rs41291468 0.00264
NM_021830.5(TWNK):c.*419A>T rs187553791 0.00223
NM_020247.4(COQ8A):c.-137C>A rs557786445 0.00166
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_021830.5(TWNK):c.1735-14C>A rs201795189 0.00127
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00119
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_021830.5(TWNK):c.*709C>G rs41291470 0.00044
NM_020247.5(COQ8A):c.1399-13G>A rs73087649 0.00040
NM_021830.5(TWNK):c.*453G>A rs769950933 0.00040
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) rs145068570 0.00032
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094 0.00025
NM_021830.5(TWNK):c.-592C>T rs774214514 0.00024
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00024
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) rs144001072 0.00021
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) rs200798080 0.00018
NM_021830.5(TWNK):c.-418C>T rs750659283 0.00016
NM_021830.5(TWNK):c.*341G>A rs1007423847 0.00014
NM_020247.5(COQ8A):c.1644C>T (p.Thr548=) rs141423403 0.00013
NM_021830.5(TWNK):c.-290G>C rs62626270 0.00013
NM_006946.4(SPTBN2):c.3431G>A (p.Arg1144Gln) rs558572111 0.00011
NM_020247.5(COQ8A):c.-113A>G rs886046063 0.00011
NM_006946.4(SPTBN2):c.968A>G (p.Gln323Arg) rs190532690 0.00010
NM_021830.5(TWNK):c.-470G>A rs886046626 0.00010
NM_020247.5(COQ8A):c.*570T>C rs778729725 0.00007
NM_021830.5(TWNK):c.-644A>T rs886046623 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_006946.4(SPTBN2):c.2162G>A (p.Arg721His) rs200016211 0.00005
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) rs762900727 0.00004
NM_021830.5(TWNK):c.*234T>G rs886046633 0.00004
NM_021830.5(TWNK):c.*438G>C rs886046634 0.00004
NM_021830.5(TWNK):c.*561C>T rs901722933 0.00004
NM_021830.5(TWNK):c.*574C>T rs886046636 0.00004
NM_021830.5(TWNK):c.-549G>A rs886046625 0.00004
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) rs139124415 0.00004
NM_021830.5(TWNK):c.672T>C (p.Ala224=) rs368863664 0.00004
NM_021830.5(TWNK):c.1953G>A (p.Lys651=) rs771310512 0.00003
NM_021830.5(TWNK):c.492C>T (p.Leu164=) rs775463083 0.00003
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) rs767175342 0.00003
NM_018319.4(TDP1):c.-232A>C rs886050882 0.00002
NM_020247.5(COQ8A):c.687G>A (p.Leu229=) rs752409331 0.00002
NM_021830.5(TWNK):c.*367A>G rs62626296 0.00002
NM_021830.5(TWNK):c.*552G>C rs111434414 0.00002
NM_021830.5(TWNK):c.*769G>A rs919556945 0.00002
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465 0.00002
NM_018075.4(ANO10):c.-140G>A rs886058485 0.00001
NM_020247.5(COQ8A):c.*150C>T rs755137919 0.00001
NM_020247.5(COQ8A):c.*22C>T rs374941896 0.00001
NM_020247.5(COQ8A):c.358G>A (p.Val120Met) rs376347405 0.00001
NM_021830.5(TWNK):c.*619G>A rs886046637 0.00001
NM_021830.5(TWNK):c.*763T>C rs886046639 0.00001
NM_021830.5(TWNK):c.-304G>A rs200599543 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1244-14C>T rs758757135 0.00001
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) rs549767223 0.00001
NM_021830.5(TWNK):c.1572C>T (p.His524=) rs774091248 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.913G>A (p.Val305Ile) rs753457416 0.00001
NM_018075.5(ANO10):c.*464C>T rs886058475
NM_018075.5(ANO10):c.*74dup rs556549778
NM_018075.5(ANO10):c.-95del rs886058483
NM_018075.5(ANO10):c.1294-3del rs778730043
NM_018243.4(SEPTIN11):c.265dup (p.Glu89fs) rs2109948029
NM_020247.5(COQ8A):c.*252A>C rs886046070
NM_020247.5(COQ8A):c.*326C>G rs886046071
NM_020247.5(COQ8A):c.*693G>T rs886046074
NM_020247.5(COQ8A):c.1163-10C>T rs886046067
NM_020247.5(COQ8A):c.1800C>T (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg) rs760566419
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_021830.5(TWNK):c.*248G>A rs1851850715
NM_021830.5(TWNK):c.*346A>C rs1851852761
NM_021830.5(TWNK):c.*555G>A rs886046635
NM_021830.5(TWNK):c.*747C>G rs886046638
NM_021830.5(TWNK):c.*803A>G rs886046640
NM_021830.5(TWNK):c.-105T>C rs886046629
NM_021830.5(TWNK):c.-423C>T rs886046627
NM_021830.5(TWNK):c.-584G>C rs1564806518
NM_021830.5(TWNK):c.-585T>G rs886046624
NM_021830.5(TWNK):c.-622C>T rs993449080
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) rs1274226715
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) rs1426435572
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) rs182559752
NM_021830.5(TWNK):c.274G>A (p.Gly92Ser) rs886046630
NM_021830.5(TWNK):c.276C>T (p.Gly92=) rs886046631
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) rs1564807938
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026

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.