ClinVar Miner

List of variants reported as likely pathogenic for hematologic disorder by Jiangsu Institute of Hematology, the First Affiliated Hospital of Soochow University

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys) rs1398477044 0.00001
NM_000037.4(ANK1):c.1405-9G>A
NM_000342.4(SLC4A1):c.2116C>A (p.Leu706Met)
NM_000342.4(SLC4A1):c.2159G>T (p.Gly720Val)
NM_000342.4(SLC4A1):c.2165C>T (p.Pro722Leu)
NM_000342.4(SLC4A1):c.2369G>A (p.Gly790Asp)
NM_000342.4(SLC4A1):c.331C>T (p.Arg111Cys)
NM_001114134.2(EPB42):c.971+8_971+9delinsAA rs2142290623
NM_001355436.2(SPTB):c.146C>T (p.Ala49Val)
NM_003126.4(SPTA1):c.1700T>C (p.Leu567Pro)
NM_003126.4(SPTA1):c.2768A>G (p.Asp923Gly)
NM_003126.4(SPTA1):c.4823G>A (p.Arg1608His)
NM_003126.4(SPTA1):c.5269C>T (p.Arg1757Cys)

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