ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive metabolic cerebellar ataxia by Counsyl

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717 0.00010
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851 0.00004
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356 0.00003
NM_000370.3(TTPA):c.205-2A>G rs758349851 0.00002
NM_000370.3(TTPA):c.2T>C (p.Met1Thr) rs786204758 0.00002
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672 0.00002
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1263+2T>C rs777935791 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter) rs72551316 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_000370.3(TTPA):c.13C>T (p.Arg5Ter) rs1008240677
NM_000370.3(TTPA):c.1A>T (p.Met1Leu) rs1408863841
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer) rs1554524061
NM_000370.3(TTPA):c.2T>A (p.Met1Lys) rs786204758
NM_000370.3(TTPA):c.313A>T (p.Arg105Ter) rs1057516423
NM_000370.3(TTPA):c.441del (p.Glu148fs) rs1057517448
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000370.3(TTPA):c.557C>A (p.Ser186Ter) rs1554605498
NM_000370.3(TTPA):c.83_105del (p.Leu28fs) rs1554525128
NM_000370.3(TTPA):c.88_118del (p.Ala30fs) rs1554525125
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs) rs1178393503
NM_000784.4(CYP27A1):c.1185-2A>C rs1553616457
NM_000784.4(CYP27A1):c.1185-2A>T rs1553616457
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs) rs886041342
NM_000784.4(CYP27A1):c.1264-2A>G rs1553616478
NM_000784.4(CYP27A1):c.1427del (p.Cys476fs) rs1553616508
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) rs374507635
NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter) rs1553614310
NM_000784.4(CYP27A1):c.256-1G>T rs886556800
NM_000784.4(CYP27A1):c.539del (p.Glu180fs) rs1553616235
NM_000784.4(CYP27A1):c.646+1G>C rs79535262
NM_000784.4(CYP27A1):c.646+2T>C rs1553616253
NM_000784.4(CYP27A1):c.845-2A>G rs1553616312
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_001386140.1(MTTP):c.1558-2A>G rs1553927840

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.