List of variants reported as pathogenic for Bernard Soulier syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro)	rs771048666	0.00013
NM_000173.7(GP1BA):c.586C>T (p.Gln196Ter)	rs371226354	0.00001
NM_000174.5(GP9):c.212T>C (p.Phe71Ser)	rs121918037	0.00001
NM_000173.7(GP1BA):c.241T>C (p.Cys81Arg)	rs781541857
NM_000173.7(GP1BA):c.376A>G (p.Asn126Asp)
NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser)	rs1394634674
NM_000173.7(GP1BA):c.987G>A (p.Trp329Ter)
NM_000174.5(GP9):c.70T>C (p.Cys24Arg)	rs28933378
NM_000174.5(GP9):c.8_11dup (p.Trp4fs)

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