ClinVar Miner

List of variants reported as uncertain significance for Diamond-Blackfan anemia 8 by Illumina Laboratory Services, Illumina

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001011.4(RPS7):c.-27C>T rs573443780 0.00006
NM_001011.4(RPS7):c.-86C>T rs186304514 0.00003
NM_001011.4(RPS7):c.-13C>T rs765604580 0.00001
NM_001011.4(RPS7):c.580T>C (p.Leu194=) rs1480952113 0.00001
NM_001011.4(RPS7):c.-23G>A rs886055985
NM_001011.4(RPS7):c.-44C>T rs563293592

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