ClinVar Miner

List of variants reported as pathogenic for anemia (disease) by Dept of Medicine and Surgery, University of Milano-Bicocca

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000096.4(CP):c.1012T>A (p.Cys338Ser) rs769313989
NM_000096.4(CP):c.1208+1G>A rs1553762556
NM_000096.4(CP):c.1865-291_2077+352del rs1553759338
NM_000096.4(CP):c.2078-74_2241del rs1553759167
NM_000096.4(CP):c.650T>C (p.Phe217Ser) rs386134125
NM_001374504.1(TMPRSS6):c.1310_1315del (p.Arg437_Val438del)

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