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

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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000407.5(GP1BB):c.268C>T (p.Pro90Ser)	rs1197982563	0.00001
NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter)	rs121909752
NM_000407.5(GP1BB):c.236_244del (p.Pro79_Leu81del)	rs1601248578
NM_000407.5(GP1BB):c.240_246dup (p.Thr83fs)
NM_000407.5(GP1BB):c.272G>A (p.Trp91Ter)
NM_000407.5(GP1BB):c.278G>A (p.Cys93Tyr)
NM_000407.5(GP1BB):c.2T>C (p.Met1Thr)
NM_000407.5(GP1BB):c.395T>A (p.Leu132Gln)	rs1601248859
NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys)	rs2145796377
NM_000407.5(GP1BB):c.406G>T (p.Glu136Ter)	rs953345181
NM_000407.5(GP1BB):c.410T>C (p.Leu137Pro)	rs1601248889
NM_000407.5(GP1BB):c.423C>A (p.Cys141Ter)	rs1402804629
NM_000407.5(GP1BB):c.448del (p.Ala150fs)	rs1360071443
NM_000407.5(GP1BB):c.462_511del (p.Gln154fs)
NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro)	rs1601248210
NM_000407.5(GP1BB):c.491dup (p.His164fs)
NM_000407.5(GP1BB):c.505_516dup (p.Val169_Leu172dup)	rs1601249021
NM_000407.5(GP1BB):c.536_545del (p.Arg179fs)
NM_000407.5(GP1BB):c.80C>T (p.Pro27Leu)	rs2145795850

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