ClinVar Miner

List of variants reported as uncertain significance for anemia by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (281):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001029.5(RPS26):c.182-16_182-4del
NM_001032.5(RPS29):c.63-6T>G rs1594573747
NM_001271696.3(ABCB7):c.1936-3C>G rs1602330362
NM_001355436.2(SPTB):c.6074T>G (p.Leu2025Arg) rs121918649
NM_001374504.1(TMPRSS6):c.1842_1843insCCACC (p.Met615fs)
NM_001374504.1(TMPRSS6):c.836+1G>A
NM_003126.4(SPTA1):c.145C>T (p.Leu49Phe) rs121918639
NM_198535.3(ZNF699):c.175+1G>A rs749115647

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