ClinVar Miner

List of variants reported as likely pathogenic for Myeloproliferative neoplasm, unclassifiable by Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368 0.15258
NM_003200.5(TCF3):c.1291G>A (p.Gly431Ser) rs1052692 0.08952
NM_006206.6(PDGFRA):c.2323+1120C>T rs2291591 0.08547
NM_003200.5(TCF3):c.1475C>T (p.Ala492Val) rs2074888 0.02845
NM_003200.5(TCF3):c.1422C>A (p.Asp474Glu) rs537417919 0.00061
NM_000314.4(PTEN):c.-380_-378GGC[5]
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_002221.4(ITPKB):c.1222T>G (p.Ser408Ala)
NM_002221.4(ITPKB):c.1655C>A (p.Pro552Gln)
NM_002221.4(ITPKB):c.267CAGCGGCAG[1] (p.91GSS[1])
NM_006206.6(PDGFRA):c.167G>C (p.Ser56Thr) rs587778601

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