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Gene: GP1BB & Disease: Thrombocytopenia, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16040	GP1BB	c.137G>A	p.Trp46Ter (p.W46X)	NM_000407.5 M	SNV	P	2 +	4
627320	GP1BB	c.47T>C	p.Leu16Pro (p.L16P)	NM_000407.5 M	SNV	P	2 +	2
627056	GP1BB	c.395T>A	p.Leu132Gln (p.L132Q)	NM_000407.5 M	SNV	LP	1 +	2
627075	GP1BB	c.448del	p.Ala150fs (p.A150fs)	NM_000407.5 M	Del	LP	1 +	2
627237	GP1BB	c.143C>A	p.Ser48Ter (p.S48X)	NM_000407.5 M	SNV	P	1 +	1
627272	GP1BB	c.212C>T	p.Pro71Leu (p.P71L)	NM_000407.5 M	SNV	VUS	1 +	1
627039	GP1BB	c.236_244del	p.Pro79_Leu81del	NM_000407.5 M	Del	LP	2 +	1
627061	GP1BB	c.407A>G	p.Glu136Gly (p.E136G)	NM_000407.5 M	SNV	VUS	1 +	1
627068	GP1BB	c.434C>G	p.Pro145Arg (p.P145R)	NM_000407.5 M	SNV	VUS	1 +	1

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