List of variants reported as uncertain significance for Bernard-Soulier syndrome, type A2, autosomal dominant

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu)	rs138825640	0.00175
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs)	rs772106076	0.00053
NM_000173.7(GP1BA):c.1761A>C (p.Gln587His)	rs570515282	0.00010
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe)	rs13306411	0.00007
NM_000173.7(GP1BA):c.1108A>G (p.Ile370Val)
NM_000173.7(GP1BA):c.1233_1349del (p.Ser415_Thr453del)
NM_000173.7(GP1BA):c.191T>C (p.Leu64Pro)	rs2151107711
NM_000173.7(GP1BA):c.334G>C (p.Gly112Arg)
NM_000173.7(GP1BA):c.463C>G (p.Leu155Val)	rs2151107851
NM_000173.7(GP1BA):c.520A>G (p.Asn174Asp)
NM_000173.7(GP1BA):c.638T>C (p.Leu213Pro)
NM_000173.7(GP1BA):c.694T>A (p.Phe232Ile)
NM_000173.7(GP1BA):c.92T>A (p.Val31Glu)

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