List of variants studied for Hereditary factor VIII deficiency disease by Mendelics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000132.4(F8):c.266-19G>A	rs28370201	0.00623
NM_000132.4(F8):c.1508G>A (p.Arg503His)	rs35383156	0.00563
NM_000132.4(F8):c.2994T>G (p.His998Gln)	rs149853218	0.00419
NM_000132.4(F8):c.5024A>G (p.Gln1675Arg)	rs782280813	0.00005
NM_000132.4(F8):c.6374G>C (p.Ser2125Thr)	rs782363141	0.00005
NM_000132.4(F8):c.5012G>A (p.Arg1671His)	rs782166477	0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)	rs782198570	0.00001
NM_000132.4(F8):c.1468A>G (p.Arg490Gly)	rs1603435026
NM_000132.4(F8):c.4379del (p.Asn1460fs)	rs387906455
NM_000132.4(F8):c.43C>T (p.Arg15Ter)	rs387906432
NM_000132.4(F8):c.4936del (p.Ala1646fs)	rs1603433729
NM_000132.4(F8):c.605G>A (p.Ser202Asn)	rs1603436218
NM_000132.4(F8):c.6301C>G (p.His2101Asp)	rs1603432783
NM_000132.4(F8):c.6429+8606G>C	rs1603432445

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