ClinVar Miner

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

Included ClinVar conditions (19):
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Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NC_000010.10:g.(?_79795104)_(79799970_?)dup
NM_007055.3(POLR3A):c.-6128_-995del
NM_033022.3(RPS24):c.*21C>T rs114512325
NM_033022.3(RPS24):c.*99T>C rs146068394
NM_033022.3(RPS24):c.-142A>G rs886047294
NM_033022.3(RPS24):c.-36T>G rs45533232
NM_033022.3(RPS24):c.-50G>A rs190989611
NM_033022.3(RPS24):c.13_14del (p.Val5fs)
NM_033022.3(RPS24):c.148A>C (p.Thr50Pro) rs1554841994
NM_033022.3(RPS24):c.168T>C (p.Phe56=) rs57866839
NM_033022.3(RPS24):c.177A>G (p.Gly59=) rs6496
NM_033022.3(RPS24):c.189T>C (p.His63=) rs201805132
NM_033022.3(RPS24):c.1A>G (p.Met1Val) rs886039545
NM_033022.3(RPS24):c.235C>T (p.Leu79=) rs192994060
NM_033022.3(RPS24):c.280-11_280-10delTT rs756756010
NM_033022.3(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.3(RPS24):c.333G>A (p.Lys111=) rs144291219
NM_033022.3(RPS24):c.363A>G (p.Ala121=) rs139181869
NM_033022.3(RPS24):c.371A>G (p.Asn124Ser) rs147128920
NM_033022.3(RPS24):c.391-3C>A rs7899453
NM_033022.3(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033022.3(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806
NM_033022.3(RPS24):c.6C>T (p.Asn2=) rs746098498
NM_033022.3(RPS24):c.91G>A (p.Gly31Arg)

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