ClinVar Miner

List of variants in gene RPS24 reported as benign for Diamond-Blackfan anemia 3

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_033022.4(RPS24):c.391-3C>A rs7899453 0.06807
NM_033022.4(RPS24):c.177A>G (p.Gly59=) rs6496 0.00736
NM_033022.4(RPS24):c.*99T>C rs146068394 0.00506
NM_033022.4(RPS24):c.168T>C (p.Phe56=) rs57866839 0.00267
NM_033022.4(RPS24):c.363A>G (p.Ala121=) rs139181869 0.00114
NM_033022.4(RPS24):c.371A>G (p.Asn124Ser) rs147128920 0.00081
NM_033022.4(RPS24):c.*21C>T rs114512325 0.00038
NM_033022.4(RPS24):c.235C>T (p.Leu79=) rs192994060 0.00016

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