ClinVar Miner

List of variants studied for Hereditary factor VIII deficiency disease by Genetics and Molecular Pathology, SA Pathology

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.1018G>A (p.Glu340Lys) rs781954986 0.00019
NM_000132.4(F8):c.396A>C (p.Glu132Asp) rs137852388 0.00018
NM_000132.4(F8):c.1337G>A (p.Arg446Gln) rs781889613 0.00010
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn) rs369414658 0.00009
NM_000132.4(F8):c.2150G>A (p.Arg717Gln) rs942909873 0.00005
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000132.4(F8):c.5123G>A (p.Arg1708His) rs111033614 0.00002
NM_000132.4(F8):c.1573G>A (p.Gly525Arg) rs1357976820 0.00001
NM_000132.4(F8):c.1649G>A (p.Arg550His) rs137852418 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.456C>G (p.Ser152Arg) rs781912033 0.00001
NM_000132.4(F8):c.493C>T (p.Pro165Ser) rs137852393 0.00001
NM_000132.4(F8):c.5302C>T (p.Arg1768Cys) rs1046670041 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000132.4(F8):c.6371A>G (p.Tyr2124Cys) rs137852459 0.00001
NM_000132.4(F8):c.6967C>T (p.Arg2323Cys) rs137852473 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000132.4(F8):c.102C>G (p.Asp34Glu)
NM_000132.4(F8):c.1172G>A (p.Arg391His) rs28935499
NM_000132.4(F8):c.1203G>A (p.Trp401Ter) rs2124106016
NM_000132.4(F8):c.1443+2T>G rs2073420861
NM_000132.4(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000132.4(F8):c.1907T>C (p.Ile636Thr)
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.4(F8):c.2150G>T (p.Arg717Leu) rs942909873
NM_000132.4(F8):c.335C>T (p.Ser112Phe)
NM_000132.4(F8):c.5146C>A (p.His1716Asn) rs2073172888
NM_000132.4(F8):c.5150_5151del (p.Tyr1717fs) rs2124046974
NM_000132.4(F8):c.557A>G (p.Asp186Gly)
NM_000132.4(F8):c.5582A>G (p.Asp1861Gly) rs2123997685
NM_000132.4(F8):c.5853A>C (p.Leu1951Phe)
NM_000132.4(F8):c.5853A>T (p.Leu1951Phe)
NM_000132.4(F8):c.5855T>A (p.Val1952Glu) rs2123996355
NM_000132.4(F8):c.5879G>A (p.Arg1960Gln) rs28937294
NM_000132.4(F8):c.5999G>C (p.Gly2000Ala) rs1603432913
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp) rs137852453
NM_000132.4(F8):c.6052G>A (p.Glu2018Lys)
NM_000132.4(F8):c.6119G>A (p.Cys2040Tyr) rs2123993600
NM_000132.4(F8):c.6273G>C (p.Lys2091Asn)
NM_000132.4(F8):c.6301C>G (p.His2101Asp) rs1603432783
NM_000132.4(F8):c.6362T>A (p.Ile2121Asn)
NM_000132.4(F8):c.6506G>A (p.Arg2169His) rs137852461
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000132.4(F8):c.6545G>A (p.Arg2182His) rs137852466
NM_000132.4(F8):c.6547A>G (p.Met2183Val) rs781797728
NM_000132.4(F8):c.671-1G>A rs1255271151
NM_000132.4(F8):c.6710C>T (p.Ala2237Val)
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter) rs137852354
NM_000132.4(F8):c.967G>A (p.Gly323Arg) rs2124109849
NM_000132.4(F8):c.984T>G (p.Phe328Leu) rs782668199
NM_000552.5(VWF):c.2308C>T (p.Pro770Ser)

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.