List of variants studied for blood coagulation disease by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000506.5(F2):c.*97G>A	rs1799963	0.00979
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser)	rs121909548	0.00112
NM_000132.4(F8):c.1636C>T (p.Arg546Trp)	rs137852416
NM_000377.3(WAS):c.1270_1295del (p.Gly424fs)	rs2147266901
NM_000377.3(WAS):c.1273_1318del (p.Leu425fs)
NM_000552.5(VWF):c.6256+2dup	rs1565822983
NM_024747.6(HPS6):c.1513C>T (p.Gln505Ter)
NM_201280.3(BLOC1S5):c.19G>T (p.Glu7Ter)

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