ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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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_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_003200.5(TCF3):c.1422C>A (p.Asp474Glu) rs537417919 0.00061
NM_000135.4:c.1901_3240del
NM_000135.4:c.710_894del
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_001018115.3(FANCD2):c.206-1G>T rs2124974541
NM_001029.5(RPS26):c.344T>C (p.Met115Thr)
NM_001304717.5(PTEN):c.140GGC[5] (p.Arg52del)
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_004629.2(FANCG):c.1252G>T (p.Glu418Ter) rs886063896
NM_004629.2(FANCG):c.1375C>T (p.Gln459Ter) rs2131053817
NM_005373.3(MPL):c.1589C>T (p.Pro530Leu)
NM_005373.3(MPL):c.407C>G (p.Pro136Arg)
NM_005373.3(MPL):c.761T>C (p.Leu254Pro)
NM_006206.6(PDGFRA):c.167G>C (p.Ser56Thr) rs587778601

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