ClinVar Miner

List of variants reported as likely benign for Diamond-Blackfan anemia 3 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_033022.4(RPS24):c.*11G>A rs139289215 0.00319
NM_033022.4(RPS24):c.168T>C (p.Phe56=) rs57866839 0.00267
NM_033022.4(RPS24):c.378T>G (p.Gly126=) rs151246531 0.00039
NM_033022.4(RPS24):c.306C>T (p.Thr102=) rs558975561 0.00025
NM_033022.4(RPS24):c.235C>T (p.Leu79=) rs192994060 0.00016

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