List of variants in gene TPO reported as pathogenic by OMIM

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu)	rs121908088	0.00016
NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp)	rs121908083	0.00014
NM_001206744.2(TPO):c.2395G>A (p.Glu799Lys)	rs121908085	0.00005
NM_001206744.2(TPO):c.2268dup (p.Glu757Ter)	rs770781635	0.00004
NM_001206744.2(TPO):c.1618C>T (p.Arg540Ter)	rs121908082	0.00001
NM_001206744.2(TPO):c.1943G>A (p.Arg648Gln)	rs121908086	0.00001
NM_001206744.2(TPO):c.1955dup (p.Phe653fs)	rs1491142370	0.00001
NM_001206744.2(TPO):c.2077C>T (p.Arg693Trp)	rs121908087	0.00001
NM_001206744.2(TPO):c.31_50dup (p.Glu17fs)	rs774713681	0.00001
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)	rs763941231
NM_001206744.2(TPO):c.1339A>T (p.Ile447Phe)	rs104893669
NM_001206744.2(TPO):c.1496del (p.Pro499fs)	rs1573380429
NM_001206744.2(TPO):c.1768G>A (p.Gly590Ser)	rs121908084
NM_001206744.2(TPO):c.2421dup (p.Cys808fs)	rs760307139
NM_001206744.2(TPO):c.2512del (p.Cys838fs)	rs1573459560

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