List of variants reported as pathogenic for hemophilia A by Genetics and Molecular Pathology, SA Pathology

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
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.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.1910A>G (p.Asn637Ser)	rs2073315379
NM_000132.4(F8):c.209_212del (p.Leu69_Phe70insTer)	rs387906434
NM_000132.4(F8):c.5150_5151del (p.Tyr1717fs)	rs2124046974
NM_000132.4(F8):c.5853A>C (p.Leu1951Phe)
NM_000132.4(F8):c.5855T>A (p.Val1952Glu)	rs2123996355
NM_000132.4(F8):c.6046C>T (p.Arg2016Trp)	rs137852453
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.671-1G>A	rs1255271151
NM_000132.4(F8):c.6976C>T (p.Arg2326Ter)	rs137852354

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