List of variants in gene GP1BA reported as uncertain significance for Bernard-Soulier syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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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.256C>T (p.Leu86Phe)	rs13306411	0.00007
NM_000173.7(GP1BA):c.658G>A (p.Gly220Arg)	rs374928728	0.00002
NM_000173.7(GP1BA):c.1108A>G (p.Ile370Val)
NM_000173.7(GP1BA):c.1233_1349del (p.Ser415_Thr453del)
NM_000173.7(GP1BA):c.1655T>A (p.Leu552Gln)
NM_000173.7(GP1BA):c.191T>C (p.Leu64Pro)	rs2151107711
NM_000173.7(GP1BA):c.251_253del (p.Thr84del)	rs2151107745
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.657C>A (p.His219Gln)	rs574742436
NM_000173.7(GP1BA):c.673T>C (p.Cys225Arg)	rs1394634674
NM_000173.7(GP1BA):c.694T>A (p.Phe232Ile)
NM_000173.7(GP1BA):c.92T>A (p.Val31Glu)
NM_000173.7(GP1BA):c.97T>C (p.Cys33Arg)	rs2151107674

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