List of variants in gene combination GP1BB, SEPT5-GP1BB reported as pathogenic for blood platelet disease

Minimum submission review status:		Collection method:
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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000407.5(GP1BB):c.124_145del (p.Arg42fs)
NM_000407.5(GP1BB):c.143C>A (p.Ser48Ter)	rs536874549
NM_000407.5(GP1BB):c.1A>T (p.Met1Leu)	rs1389191920
NM_000407.5(GP1BB):c.22dup (p.Ala8fs)
NM_000407.5(GP1BB):c.317_320dup (p.Glu109fs)	rs2145796221
NM_000407.5(GP1BB):c.443G>A (p.Trp148Ter)	rs1375840544
NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro)	rs1601248210
NM_000407.5(GP1BB):c.500T>C (p.Leu167Pro)	rs2145796556

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