ClinVar Miner

List of variants studied for hemophilia A by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala) rs1940905575
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
NM_000132.4(F8):c.1724A>C (p.Lys575Thr) rs2073367952
NM_000132.4(F8):c.1804C>T (p.Arg602Ter) rs137852424
NM_000132.4(F8):c.1969T>C (p.Tyr657His) rs2124082280
NM_000132.4(F8):c.233del (p.Phe78fs) rs2124148911
NM_000132.4(F8):c.255dup (p.Pro86fs) rs2124148856
NM_000132.4(F8):c.2573C>T (p.Pro858Leu) rs2124053040
NM_000132.4(F8):c.2776C>T (p.Pro926Ser) rs2124052509
NM_000132.4(F8):c.3144G>T (p.Trp1048Cys) rs1060499784
NM_000132.4(F8):c.3266C>A (p.Ser1089Ter) rs2073189135
NM_000132.4(F8):c.3385C>T (p.Gln1129Ter)
NM_000132.4(F8):c.3744A>T (p.Leu1248Phe) rs2124050282
NM_000132.4(F8):c.3780del (p.Asp1260fs) rs2124050215
NM_000132.4(F8):c.4379del (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.494del (p.Pro165fs) rs2124140985
NM_000132.4(F8):c.5005A>G (p.Ile1669Val) rs2124047405
NM_000132.4(F8):c.5179G>A (p.Asp1727Asn)
NM_000132.4(F8):c.5218A>G (p.Arg1740Gly)
NM_000132.4(F8):c.5267A>T (p.Glu1756Val) rs2124000688
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro) rs1603432979
NM_000132.4(F8):c.5816-2A>G rs2123996454
NM_000132.4(F8):c.5863C>G (p.Gln1955Glu) rs2123996340
NM_000132.4(F8):c.6123G>C (p.Gln2041His) rs2123993594
NM_000132.4(F8):c.6322G>C (p.Ala2108Pro) rs2148583727
NM_000132.4(F8):c.6678del (p.Ala2227fs) rs1273763950
NM_000132.4(F8):c.670+5G>A
NM_000132.4(F8):c.6709G>A (p.Ala2237Thr)
NM_000132.4(F8):c.6709G>T (p.Ala2237Ser) rs2148567205
NM_000132.4(F8):c.6834G>T (p.Glu2278Asp) rs2072682134

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.