ClinVar Miner

List of variants in gene RPS24 studied for Diamond-Blackfan anemia 3

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Total variants: 32
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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.*11G>A rs139289215 0.00319
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_001142285.2(RPS24):c.811A>C (p.Ile271Leu) rs74653472 0.00078
NM_033022.4(RPS24):c.378T>G (p.Gly126=) rs151246531 0.00039
NM_033022.4(RPS24):c.*21C>T rs114512325 0.00038
NM_033022.4(RPS24):c.306C>T (p.Thr102=) rs558975561 0.00025
NM_001142285.2(RPS24):c.409G>A (p.Gly137Arg) rs763683559 0.00019
NM_033022.4(RPS24):c.235C>T (p.Leu79=) rs192994060 0.00016
NM_001142285.2(RPS24):c.799C>G (p.Pro267Ala) rs931570987 0.00006
NM_001142285.2(RPS24):c.526G>A (p.Val176Met) rs558584969 0.00003
NM_033022.4(RPS24):c.333G>A (p.Lys111=) rs144291219 0.00001
NM_033022.4(RPS24):c.91G>A (p.Gly31Arg) rs757084547 0.00001
NM_001142285.2(RPS24):c.439G>A (p.Glu147Lys) rs1848131795
NM_001142285.2(RPS24):c.484C>T (p.Arg162Trp)
NM_001142285.2(RPS24):c.522del (p.Pro173_Trp174insTer)
NM_001142285.2(RPS24):c.659C>T (p.Ala220Val) rs530358175
NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg) rs1160029790
NM_033022.4(RPS24):c.148A>C (p.Thr50Pro) rs1554841994
NM_033022.4(RPS24):c.149C>G (p.Thr50Ser)
NM_033022.4(RPS24):c.155C>T (p.Pro52Leu)
NM_033022.4(RPS24):c.157del (p.Asp53fs) rs2131976643
NM_033022.4(RPS24):c.273del (p.Ala92fs)
NM_033022.4(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.4(RPS24):c.390+4T>C
NM_033022.4(RPS24):c.4-7T>C rs1847840052
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806

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