ClinVar Miner

Variants with conflicting interpretations "pathogenic" from GeneReviews and "uncertain significance" from any submitter

Minimum review status of the submission from GeneReviews: Collection method of the submission from GeneReviews:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr) rs111294855 0.00212
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00021
NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys) rs121908494 0.00006
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser) rs121913040 0.00004
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp) rs199476185 0.00004
NR_001566.1(TERC):n.37A>G rs199422261 0.00003
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433 0.00002
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala) rs267606687 0.00002
NM_000096.4(CP):c.548T>C (p.Ile183Thr) rs386134123 0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891 0.00001
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr) rs137853341 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NR_001566.1(TERC):n.35C>T rs199422260 0.00001
NM_000096.4(CP):c.82A>T (p.Ile28Phe) rs386134121
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) rs121913586
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val) rs118192153
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr) rs1565799723
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001953.5(TYMP):c.228G>A (p.Met76Ile) rs1064792859
NM_015915.5(ATL1):c.1519dup (p.Ile507fs) rs863223314
NM_024649.5(BBS1):c.831-3C>G rs113994179
NR_001566.1(TERC):n.116C>T rs199422272
NR_001566.1(TERC):n.374_1194del821 rs1553915517
NR_001566.1(TERC):n.410C>G rs199422286
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.