ClinVar Miner

List of variants reported as pathogenic for Thrombocythemia 2

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005373.3(MPL):c.127C>T (p.Arg43Ter)	rs148434485	0.00004
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn)	rs121913614
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)	rs750046020

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