List of variants in gene GP1BA reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys)	rs1597638398
NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe)	rs121908063
NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro)	rs1597638598
NM_000173.7(GP1BA):c.407T>C (p.Leu136Pro)	rs1597638681
NM_000173.7(GP1BA):c.449A>G (p.Asn150Ser)	rs1597638745
NM_000173.7(GP1BA):c.470dup (p.Gly158fs)	rs1597638753
NM_000173.7(GP1BA):c.745G>A (p.Gly249Ser)	rs1597639057
NM_000173.7(GP1BA):c.763A>G (p.Met255Val)	rs121908064
NM_000173.7(GP1BA):c.98G>C (p.Cys33Ser)	rs1597638300

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