ClinVar Miner

List of variants in gene RPS24 reported as likely 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.*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
NM_033022.4(RPS24):c.333G>A (p.Lys111=) rs144291219 0.00001
NM_001142285.2(RPS24):c.484C>T (p.Arg162Trp)
NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg) rs1160029790

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