ClinVar Miner

List of variants in gene PAFAH1B1 reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000017.10:g.(?_2541583)_(2541634_?)dup
NC_000017.10:g.(?_2569290)_(2576071_?)dup
NC_000017.10:g.(?_2573437)_(2585096_?)del
NM_000430.4(PAFAH1B1):c.1072G>A (p.Asp358Asn) rs2151673924
NM_000430.4(PAFAH1B1):c.1083_1084dup (p.Leu362fs) rs2151673946
NM_000430.4(PAFAH1B1):c.117+5G>C rs1555526248
NM_000430.4(PAFAH1B1):c.117_117+2del rs1064796229
NM_000430.4(PAFAH1B1):c.1190C>T (p.Thr397Ile) rs1131691295
NM_000430.4(PAFAH1B1):c.121G>A (p.Glu41Lys) rs587784250
NM_000430.4(PAFAH1B1):c.287C>G (p.Pro96Arg) rs2151660984
NM_000430.4(PAFAH1B1):c.33-1G>C rs1057521243
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser) rs121434487
NM_000430.4(PAFAH1B1):c.722G>C (p.Arg241Pro) rs121434488
NM_000430.4(PAFAH1B1):c.901-1G>A

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.