ClinVar Miner

List of variants studied for Hereditary factor VIII deficiency disease by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000132.4(F8):c.6951C>G (p.Asp2317Glu) rs782799573 0.00011
NM_000132.4(F8):c.1748A>G (p.Asn583Ser) rs782657516 0.00002
NM_000132.4(F8):c.1264G>C (p.Asp422His) rs370737113
NM_000132.4(F8):c.1405G>T (p.Gly469Ter)
NM_000132.4(F8):c.1655A>G (p.Tyr552Cys)
NM_000132.4(F8):c.1727A>T (p.Glu576Val)
NM_000132.4(F8):c.1904-2A>G
NM_000132.4(F8):c.2009TCT[2] (p.Phe672del) rs1476178386
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer) rs387906434
NM_000132.4(F8):c.2712del (p.Ile905fs)
NM_000132.4(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.3637dup (p.Ile1213fs) rs387906450
NM_000132.4(F8):c.4379dup (p.Asn1460fs) rs387906455
NM_000132.4(F8):c.5297T>A (p.Leu1766Ter)
NM_000132.4(F8):c.5998+1G>T
NM_000132.4(F8):c.6574+5G>A

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