ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_033022.4(RPS24):c.391-3C>A rs7899453 0.06807
NC_000010.11:g.78054989C>T rs76653255 0.06196
NC_000010.11:g.78054561T>C rs72642283 0.03823
NC_000010.11:g.78054841A>G rs140177297 0.00947
NM_033022.4(RPS24):c.177A>G (p.Gly59=) rs6496 0.00614
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 0.00250
NM_033022.4(RPS24):c.363A>G (p.Ala121=) rs139181869 0.00114
NM_001142285.2(RPS24):c.811A>C (p.Ile271Leu) rs74653472 0.00078
NM_033022.4(RPS24):c.371A>G (p.Asn124Ser) rs147128920 0.00072
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.235C>T (p.Leu79=) rs192994060 0.00028
NM_001142285.2(RPS24):c.484C>T (p.Arg162Trp) rs375150364 0.00025
NM_001142285.2(RPS24):c.409G>A (p.Gly137Arg) rs763683559 0.00017
NM_033022.4(RPS24):c.306C>T (p.Thr102=) rs558975561 0.00007
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.21C>T (p.Ile7=) rs762233086 0.00002
NM_033022.4(RPS24):c.122G>A (p.Arg41Gln) rs751857347 0.00001
NM_033022.4(RPS24):c.23G>A (p.Arg8His) rs1291294524 0.00001
NM_033022.4(RPS24):c.333G>A (p.Lys111=) rs144291219 0.00001
NM_033022.4(RPS24):c.390+4T>C rs764283144 0.00001
NM_033022.4(RPS24):c.4-3C>T rs996698952 0.00001
NM_033022.4(RPS24):c.91G>A (p.Gly31Arg) rs757084547 0.00001
NC_000010.11:g.78054851C>T
NM_001142285.2(RPS24):c.439G>A (p.Glu147Lys) rs1848131795
NM_001142285.2(RPS24):c.522del (p.Pro173_Trp174insTer) rs2493322796
NM_001142285.2(RPS24):c.655G>A (p.Gly219Arg)
NM_001142285.2(RPS24):c.659C>T (p.Ala220Val) rs530358175
NM_001142285.2(RPS24):c.698C>T (p.Pro233Leu)
NM_001142285.2(RPS24):c.700_701inv (p.His234Cys)
NM_001142285.2(RPS24):c.712G>A (p.Gly238Ser)
NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg) rs1160029790
NM_033022.4(RPS24):c.11C>T (p.Thr4Ile)
NM_033022.4(RPS24):c.148A>C (p.Thr50Pro) rs1554841994
NM_033022.4(RPS24):c.149C>G (p.Thr50Ser) rs1369236514
NM_033022.4(RPS24):c.155C>T (p.Pro52Leu) rs1434042354
NM_033022.4(RPS24):c.157del (p.Asp53fs) rs2131976643
NM_033022.4(RPS24):c.220A>G (p.Met74Val)
NM_033022.4(RPS24):c.248A>G (p.Lys83Arg)
NM_033022.4(RPS24):c.260C>T (p.Pro87Leu)
NM_033022.4(RPS24):c.273del (p.Ala92fs) rs2493281886
NM_033022.4(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.4(RPS24):c.348A>G (p.Lys116=) rs1589328276
NM_033022.4(RPS24):c.350T>C (p.Val117Ala)
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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