ClinVar Miner

List of variants in gene PAFAH1B1 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_000430.4(PAFAH1B1):c.*17C>T rs6628
NM_000430.4(PAFAH1B1):c.1002C>T (p.Leu334=) rs199648962
NM_000430.4(PAFAH1B1):c.1059T>C (p.Ile353=) rs1803915
NM_000430.4(PAFAH1B1):c.1110G>A (p.Lys370=)
NM_000430.4(PAFAH1B1):c.118-14T>C rs147692085
NM_000430.4(PAFAH1B1):c.1190C>T (p.Thr397Ile) rs1131691295
NM_000430.4(PAFAH1B1):c.192+43T>C rs75468446
NM_000430.4(PAFAH1B1):c.192+49C>T rs140548168
NM_000430.4(PAFAH1B1):c.33-3C>G rs587784260
NM_000430.4(PAFAH1B1):c.33-8_33-7delinsAG rs1555526239
NM_000430.4(PAFAH1B1):c.350A>G (p.His117Arg) rs797045860
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904
NM_000430.4(PAFAH1B1):c.400-13G>A rs1346378389
NM_000430.4(PAFAH1B1):c.474C>T (p.Phe158=) rs116237011
NM_000430.4(PAFAH1B1):c.568+27C>T rs3213696
NM_000430.4(PAFAH1B1):c.58C>A (p.Arg20Ser) rs975702095
NM_000430.4(PAFAH1B1):c.672-10A>C rs77153143
NM_000430.4(PAFAH1B1):c.690C>T (p.Phe230=) rs1351403324
NM_000430.4(PAFAH1B1):c.693A>T (p.Thr231=) rs2228614
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620
NM_000430.4(PAFAH1B1):c.794C>T (p.Thr265Ile) rs769280736
NM_000430.4(PAFAH1B1):c.958A>G (p.Ile320Val) rs144659773

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.