ClinVar Miner

Variants in gene P3H1 with conflicting interpretations "benign" and "uncertain significance"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.*77C>T rs13871 0.06035
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg) rs6700677 0.06024
NM_022356.4(P3H1):c.1647G>A (p.Met549Ile) rs11581921 0.05897
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser) rs55716016 0.04262
NM_022356.4(P3H1):c.1284C>T (p.Ile428=) rs61746642 0.01592
NM_022356.4(P3H1):c.1026C>T (p.Ala342=) rs61100157 0.01581
NM_022356.4(P3H1):c.1569+3A>G rs76871760 0.01579
NM_022356.4(P3H1):c.1812C>T (p.Pro604=) rs34809608 0.01577
NM_022356.4(P3H1):c.978C>T (p.Thr326=) rs74070022 0.01251
NM_022356.4(P3H1):c.1233G>A (p.Arg411=) rs61746653 0.01103
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_022356.4(P3H1):c.-45C>T rs183564323 0.00663
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys) rs3738497 0.00321
NM_022356.4(P3H1):c.1473+5G>T rs114044880 0.00294
NM_022356.4(P3H1):c.1501C>T (p.Arg501Trp) rs115108794 0.00209
NM_022356.4(P3H1):c.1428C>T (p.Gly476=) rs141786883 0.00022
NM_022356.4(P3H1):c.1721-4C>T rs200901466 0.00015

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.