ClinVar Miner

List of variants studied for Congenital amegakaryocytic thrombocytopenia; Thrombocythemia 1 by Invitae

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Total variants: 11
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HGVS dbSNP
NM_005373.2(MPL):c.1460C>T (p.Thr487Ile) rs770428240
NM_005373.2(MPL):c.1473G>C (p.Trp491Cys) rs121913613
NM_005373.2(MPL):c.173C>T (p.Ala58Val) rs6087
NM_005373.2(MPL):c.1744_1745del (p.Leu582fs) rs770402221
NM_005373.2(MPL):c.1803C>T (p.Thr601=) rs140794721
NM_005373.2(MPL):c.1805T>C (p.Met602Thr) rs770770219
NM_005373.2(MPL):c.212G>A (p.Arg71Gln) rs368753117
NM_005373.2(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.2(MPL):c.771C>A (p.Arg257=) rs1553127722
NM_005373.2(MPL):c.844G>A (p.Gly282Arg) rs878854770
NM_005373.2(MPL):c.92T>C (p.Leu31Pro) rs878854771

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