List of variants in gene TPI1 reported as pathogenic for hematologic disorder

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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_000365.6(TPI1):c.315G>C (p.Glu105Asp)	rs121964845	0.00012
NM_000365.6(TPI1):c.125G>A (p.Cys42Tyr)	rs121964848	0.00001
NM_000365.6(TPI1):c.569G>A (p.Arg190Gln)	rs1565538350	0.00001
NM_000365.6(TPI1):c.32dup (p.Asn12fs)	rs587777441
NM_000365.6(TPI1):c.436G>T (p.Glu146Ter)	rs121964850
NM_000365.6(TPI1):c.511A>G (p.Ile171Val)	rs121964849
NM_000365.6(TPI1):c.721T>C (p.Phe241Leu)	rs121964847
NM_000365.6(TPI1):c.722T>C (p.Phe241Ser)	rs587777440

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