List of variants in gene GP1BA reported as pathogenic 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: 15

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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_000173.7(GP1BA):c.104del (p.Lys35fs)	rs1555549041
NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs)	rs773663190
NM_000173.7(GP1BA):c.1408del (p.Ser470fs)
NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe)	rs121908063
NM_000173.7(GP1BA):c.241T>C (p.Cys81Arg)	rs781541857
NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro)	rs1597638598
NM_000173.7(GP1BA):c.376A>G (p.Asn126Asp)
NM_000173.7(GP1BA):c.499G>T (p.Glu167Ter)	rs753768072
NM_000173.7(GP1BA):c.515C>T (p.Ala172Val)	rs121908065
NM_000173.7(GP1BA):c.58T>G (p.Cys20Gly)	rs2151107661
NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser)	rs1394634674
NM_000173.7(GP1BA):c.674G>C (p.Cys225Ser)	rs2151107940
NM_000173.7(GP1BA):c.987G>A (p.Trp329Ter)

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