List of variants in gene P3H1 reported as benign by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 47

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022356.4(P3H1):c.466-43A>T	rs2816593	0.98803
NM_022356.4(P3H1):c.1720+286T>C	rs1018572	0.98681
NM_022356.4(P3H1):c.1839-141A>G	rs7552138	0.72763
NM_022356.4(P3H1):c.618+127C>T	rs2760070	0.69640
NM_022356.4(P3H1):c.*257G>A	rs6882	0.63640
NM_022356.3(P3H1):c.-165G>C	rs3738504	0.59343
NM_022356.4(P3H1):c.1570-314G>C	rs76550035	0.52965
NM_022356.4(P3H1):c.1839-30G>A	rs3738499	0.52507
NC_000001.11:g.42767206A>T	rs3738505	0.21968
NC_000001.11:g.42767127G>T	rs11210712	0.20074
NM_022356.4(P3H1):c.2055+74T>A	rs3738496	0.11033
NM_022356.4(P3H1):c.1838+74T>C	rs3738500	0.11031
NM_022356.4(P3H1):c.2055+17C>T	rs67014447	0.06792
NM_022356.4(P3H1):c.1570-176T>C	rs11576228	0.06335
NM_022356.4(P3H1):c.1915-20T>G	rs3738498	0.06305
NM_022356.4(P3H1):c.1080+147G>A	rs3738503	0.06301
NM_022356.4(P3H1):c.1914+109G>A	rs72661349	0.06040
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.1170+32G>A	rs3738502	0.05587
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser)	rs55716016	0.04262
NM_022356.4(P3H1):c.941-52A>C	rs72956932	0.04240
NM_022356.4(P3H1):c.1569+43G>A	rs74070021	0.02354
NM_022356.4(P3H1):c.1838+182G>A	rs74070019	0.02336
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.1720+299A>G	rs77991629	0.01577
NM_022356.4(P3H1):c.1812C>T (p.Pro604=)	rs34809608	0.01577
NM_022356.4(P3H1):c.1346-284G>A	rs79290834	0.01574
NM_022356.4(P3H1):c.1720+52C>T	rs75763761	0.01574
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.2056-157C>T	rs80296318	0.00662
NM_022356.4(P3H1):c.1716C>T (p.Ile572=)	rs35500164	0.00563
NM_022356.4(P3H1):c.2115C>T (p.Leu705=)	rs199887811	0.00409
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)	rs113593896	0.00341
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.1081-132AG[2]	rs60025227
NM_022356.4(P3H1):c.1570-320_1570-319insT	rs1301230654
NM_022356.4(P3H1):c.1570-323A>C	rs71518462
NM_022356.4(P3H1):c.1838+66C>A	rs59442926
NM_022356.4(P3H1):c.2055+13C>G	rs76628300

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.