List of variants in gene PAFAH1B1 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: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000430.4(PAFAH1B1):c.901-346T>C	rs4790354	0.99257
NM_000430.4(PAFAH1B1):c.568+233C>T	rs3213697	0.89115
NM_000430.4(PAFAH1B1):c.568+27C>T	rs3213696	0.89105
NM_000430.4(PAFAH1B1):c.400-284A>G	rs11078302	0.86470
NM_000430.4(PAFAH1B1):c.672-263C>T	rs2317297	0.82967
NM_000430.4(PAFAH1B1):c.*17C>T	rs6628	0.20094
NM_000430.4(PAFAH1B1):c.672-177A>T	rs7223411	0.15490
NM_000430.4(PAFAH1B1):c.1160-77G>A	rs62068249	0.13980
NM_000430.4(PAFAH1B1):c.901-209T>G	rs138515134	0.03469
NM_000430.4(PAFAH1B1):c.568+281T>G	rs75027556	0.02664
NM_000430.4(PAFAH1B1):c.192+43T>C	rs75468446	0.02663
NM_000430.4(PAFAH1B1):c.901-79C>G	rs115257538	0.02489
NM_000430.4(PAFAH1B1):c.-191+1560A>G	rs76026762	0.02484
NM_000430.4(PAFAH1B1):c.672-10A>C	rs77153143	0.01770
NC_000017.11:g.2593443C>T	rs75906129	0.01598
NM_000430.4(PAFAH1B1):c.33-181_33-180del	rs112251814	0.01572
NM_000430.4(PAFAH1B1):c.192+174T>C	rs111612096	0.01567
NM_000430.4(PAFAH1B1):c.693A>T (p.Thr231=)	rs2228614	0.01444
NM_000430.4(PAFAH1B1):c.474C>T (p.Phe158=)	rs116237011	0.00638
NM_000430.4(PAFAH1B1):c.1059T>C (p.Ile353=)	rs1803915	0.00347
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=)	rs150380620	0.00115
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=)	rs140936904	0.00052
NM_000430.4(PAFAH1B1):c.-191+1431_-191+1432insTTCTT	rs1188566045
NM_000430.4(PAFAH1B1):c.-191+3737TC[2]	rs10606544
NM_000430.4(PAFAH1B1):c.-191+3776GT[10]	rs142241253
NM_000430.4(PAFAH1B1):c.1160-133G>T	rs115787518
NM_000430.4(PAFAH1B1):c.671+320dup	rs200096941

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.