ClinVar Miner

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

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 113
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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.90C>T (p.Pro30=) rs372043585 0.00017
NM_033022.4(RPS24):c.235C>T (p.Leu79=) rs192994060 0.00016
NM_033022.4(RPS24):c.189T>C (p.His63=) rs201805132 0.00015
NM_001142285.2(RPS24):c.799C>G (p.Pro267Ala) rs931570987 0.00006
NM_033022.4(RPS24):c.276A>T (p.Ala92=) rs763876559 0.00004
NM_033022.4(RPS24):c.391-14C>T rs201639485 0.00004
NM_033022.4(RPS24):c.69+10G>A rs767375848 0.00004
NM_001142285.2(RPS24):c.526G>A (p.Val176Met) rs558584969 0.00003
NM_033022.4(RPS24):c.122G>A (p.Arg41Gln) rs751857347 0.00003
NM_033022.4(RPS24):c.12C>T (p.Thr4=) rs769340744 0.00003
NM_033022.4(RPS24):c.21C>T (p.Ile7=) rs762233086 0.00003
NM_033022.4(RPS24):c.60G>A (p.Arg20=) rs751090185 0.00002
NM_033022.4(RPS24):c.6C>T (p.Asn2=) rs746098498 0.00002
NM_033022.4(RPS24):c.82C>G (p.Leu28Val) rs775383590 0.00002
NM_033022.4(RPS24):c.234C>T (p.Ser78=) rs1177372076 0.00001
NM_033022.4(RPS24):c.23G>A (p.Arg8His) rs1291294524 0.00001
NM_033022.4(RPS24):c.264A>G (p.Lys88=) rs1476221269 0.00001
NM_033022.4(RPS24):c.279+2dup rs1459887559 0.00001
NM_033022.4(RPS24):c.324G>A (p.Lys108=) rs746433565 0.00001
NM_033022.4(RPS24):c.333G>A (p.Lys111=) rs144291219 0.00001
NM_033022.4(RPS24):c.390+14A>G rs1158604804 0.00001
NM_033022.4(RPS24):c.390+3dup rs780893174 0.00001
NM_033022.4(RPS24):c.7G>A (p.Asp3Asn) rs772167568 0.00001
NM_033022.4(RPS24):c.91G>A (p.Gly31Arg) rs757084547 0.00001
NM_033022.4(RPS24):c.99G>A (p.Ala33=) rs772511022 0.00001
NC_000010.10:g.(?_79795104)_(79799970_?)dup
NC_000010.10:g.(?_79799952)_(79799964_?)dup
NC_000010.11:g.(?_78033902)_(78033914_?)del
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.13_14del (p.Val5fs) rs1589326484
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>A (p.Pro52Gln)
NM_033022.4(RPS24):c.155C>T (p.Pro52Leu)
NM_033022.4(RPS24):c.156G>A (p.Pro52=)
NM_033022.4(RPS24):c.156G>T (p.Pro52=) rs150157180
NM_033022.4(RPS24):c.157del (p.Asp53fs) rs2131976643
NM_033022.4(RPS24):c.158A>T (p.Asp53Val)
NM_033022.4(RPS24):c.160G>A (p.Val54Ile)
NM_033022.4(RPS24):c.165C>T (p.Ile55=) rs1589326814
NM_033022.4(RPS24):c.171A>T (p.Val57=)
NM_033022.4(RPS24):c.172T>C (p.Phe58Leu)
NM_033022.4(RPS24):c.20T>G (p.Ile7Ser) rs1554841961
NM_033022.4(RPS24):c.21C>A (p.Ile7=)
NM_033022.4(RPS24):c.240T>G (p.Asp80Glu)
NM_033022.4(RPS24):c.246A>C (p.Ala82=) rs1240034111
NM_033022.4(RPS24):c.255T>C (p.Asn85=)
NM_033022.4(RPS24):c.271C>G (p.Leu91Val)
NM_033022.4(RPS24):c.273del (p.Ala92fs)
NM_033022.4(RPS24):c.275C>A (p.Ala92Glu)
NM_033022.4(RPS24):c.277A>C (p.Arg93=)
NM_033022.4(RPS24):c.278G>A (p.Arg93Lys)
NM_033022.4(RPS24):c.279+14_279+18del
NM_033022.4(RPS24):c.279+17T>A
NM_033022.4(RPS24):c.279+20_279+27del rs763970487
NM_033022.4(RPS24):c.279+5G>T
NM_033022.4(RPS24):c.280-11_280-10del rs756756010
NM_033022.4(RPS24):c.280-14C>G
NM_033022.4(RPS24):c.280-19G>T
NM_033022.4(RPS24):c.280-6A>C
NM_033022.4(RPS24):c.280-6A>G
NM_033022.4(RPS24):c.280C>T (p.His94Tyr)
NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)
NM_033022.4(RPS24):c.297G>A (p.Lys99=) rs1020277168
NM_033022.4(RPS24):c.297G>C (p.Lys99Asn)
NM_033022.4(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.4(RPS24):c.320G>A (p.Arg107Gln)
NM_033022.4(RPS24):c.348A>G (p.Lys116=)
NM_033022.4(RPS24):c.352_354del (p.Arg118del) rs1847891159
NM_033022.4(RPS24):c.366G>A (p.Lys122=)
NM_033022.4(RPS24):c.372T>C (p.Asn124=)
NM_033022.4(RPS24):c.384C>G (p.Gly128=)
NM_033022.4(RPS24):c.390+13A>C
NM_033022.4(RPS24):c.390+4T>C
NM_033022.4(RPS24):c.390+9C>T
NM_033022.4(RPS24):c.391-11C>T
NM_033022.4(RPS24):c.391-4dup
NM_033022.4(RPS24):c.391-6A>G
NM_033022.4(RPS24):c.4-11T>C
NM_033022.4(RPS24):c.4-16G>C
NM_033022.4(RPS24):c.4-20C>G rs2131975997
NM_033022.4(RPS24):c.4-3C>T
NM_033022.4(RPS24):c.4-7T>C rs1847840052
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033022.4(RPS24):c.47G>C (p.Arg16Pro) rs199524789
NM_033022.4(RPS24):c.47G>T (p.Arg16Leu)
NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806
NM_033022.4(RPS24):c.66_67del (p.Gln22fs)
NM_033022.4(RPS24):c.69+11G>A
NM_033022.4(RPS24):c.69+17C>T
NM_033022.4(RPS24):c.70-10C>T rs1345822997
NM_033022.4(RPS24):c.70-14A>G
NM_033022.4(RPS24):c.70-15G>T
NM_033022.4(RPS24):c.81C>A (p.Val27=)
NM_033022.4(RPS24):c.82C>T (p.Leu28Phe) rs775383590
NM_033022.4(RPS24):c.86_103del (p.His29_Val35delinsLeu)
NM_033022.4(RPS24):c.97G>T (p.Ala33Ser)

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