List of variants in gene MPL reported as likely pathogenic for Congenital amegakaryocytic thrombocytopenia; Essential thrombocythemia

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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: 23

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HGVS	dbSNP	gnomAD frequency
NM_005373.3(MPL):c.79+2T>A	rs146249964	0.00018
NM_005373.3(MPL):c.1309-1G>T	rs1243113655	0.00001
NM_005373.3(MPL):c.1566-1G>A	rs1570474015	0.00001
NM_005373.3(MPL):c.311T>C (p.Phe104Ser)	rs1196161699	0.00001
NM_005373.3(MPL):c.981-1G>C	rs769297582	0.00001
NM_005373.3(MPL):c.1165+1G>C	rs775550081
NM_005373.3(MPL):c.1166-1G>C	rs2153918730
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)
NM_005373.3(MPL):c.1308+2T>G
NM_005373.3(MPL):c.1468+1G>A
NM_005373.3(MPL):c.1468+2T>C	rs1057517761
NM_005373.3(MPL):c.1469-1G>T	rs771729218
NM_005373.3(MPL):c.1469-2A>T
NM_005373.3(MPL):c.212+1G>A	rs142565191
NM_005373.3(MPL):c.213-1G>A
NM_005373.3(MPL):c.305G>A (p.Arg102His)	rs28928907
NM_005373.3(MPL):c.407C>A (p.Pro136His)	rs764904424
NM_005373.3(MPL):c.690+2T>A	rs2153916885
NM_005373.3(MPL):c.690+2T>C
NM_005373.3(MPL):c.79+1G>A
NM_005373.3(MPL):c.79+1G>T	rs1647004958
NM_005373.3(MPL):c.854-1G>A
NM_005373.3(MPL):c.980+2T>A	rs1647023010

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