ClinVar Miner

List of variants in gene MFAP3L studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021647.8(MFAP3L):c.316G>A (p.Asp106Asn) rs760906723 0.00013
NM_021647.8(MFAP3L):c.155G>A (p.Arg52Lys) rs773585276 0.00007
NM_021647.8(MFAP3L):c.322G>A (p.Gly108Ser) rs150502329 0.00007
NM_021647.8(MFAP3L):c.841G>A (p.Ala281Thr) rs376999753 0.00007
NM_021647.8(MFAP3L):c.1043T>C (p.Leu348Pro) rs540620680 0.00003
NM_021647.8(MFAP3L):c.640G>A (p.Ala214Thr) rs774533195 0.00003
NM_021647.8(MFAP3L):c.172G>A (p.Val58Ile) rs368188871 0.00002
NM_021647.8(MFAP3L):c.949A>G (p.Ile317Val) rs899677532 0.00002
NM_021647.8(MFAP3L):c.989C>T (p.Ala330Val) rs776080666 0.00002
NM_021647.8(MFAP3L):c.100A>G (p.Ser34Gly) rs2477890116 0.00001
NM_021647.8(MFAP3L):c.550A>G (p.Lys184Glu) rs142955967 0.00001
NM_021647.8(MFAP3L):c.721G>A (p.Val241Met) rs200379070 0.00001
NM_021647.8(MFAP3L):c.838G>A (p.Ala280Thr) rs746378548 0.00001
NM_021647.8(MFAP3L):c.1018G>A (p.Val340Ile)
NM_021647.8(MFAP3L):c.1051G>C (p.Glu351Gln)
NM_021647.8(MFAP3L):c.1061C>A (p.Pro354His)
NM_021647.8(MFAP3L):c.1075C>G (p.Pro359Ala)
NM_021647.8(MFAP3L):c.121G>A (p.Val41Met) rs149673902
NM_021647.8(MFAP3L):c.137T>G (p.Val46Gly)
NM_021647.8(MFAP3L):c.142G>A (p.Val48Ile)
NM_021647.8(MFAP3L):c.142G>C (p.Val48Leu)
NM_021647.8(MFAP3L):c.276G>T (p.Glu92Asp)
NM_021647.8(MFAP3L):c.400G>A (p.Val134Met)
NM_021647.8(MFAP3L):c.518G>A (p.Cys173Tyr) rs2477734704
NM_021647.8(MFAP3L):c.554C>T (p.Ala185Val)
NM_021647.8(MFAP3L):c.556A>G (p.Ile186Val)
NM_021647.8(MFAP3L):c.617A>G (p.Lys206Arg) rs1737741989
NM_021647.8(MFAP3L):c.675C>A (p.Phe225Leu) rs763014531
NM_021647.8(MFAP3L):c.695G>A (p.Arg232His) rs1246565821
NM_021647.8(MFAP3L):c.71C>T (p.Thr24Ile) rs771263749
NM_021647.8(MFAP3L):c.724C>A (p.Pro242Thr) rs1227048553
NM_021647.8(MFAP3L):c.848G>A (p.Arg283Lys)
NM_021647.8(MFAP3L):c.884G>A (p.Arg295Gln)
NM_021647.8(MFAP3L):c.913G>T (p.Ala305Ser) rs779194317
NM_021647.8(MFAP3L):c.920C>T (p.Ser307Leu)

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.