ClinVar Miner

List of variants reported as likely pathogenic for anemia by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 16q24.3(chr16:89773385-89775741)
NM_000059.4(BRCA2):c.4733T>G (p.Leu1578Ter) rs2137509604
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp) rs121912751
NM_000398.7(CYB5R3):c.274C>T (p.Arg92Trp)
NM_001063.4(TF):c.1444C>T (p.Pro482Ser) rs2107925842
NM_001355436.2(SPTB):c.1182+2T>C rs2139613101

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