ClinVar Miner

List of variants in gene RPS24 reported as pathogenic for Diamond-Blackfan anemia

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_001142283.1(RPS24):c.13_14del (p.Val5fs)
NM_001142283.1(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806
NM_033022.3(RPS24):c.148A>C (p.Thr50Pro) rs1554841994
NM_033022.3(RPS24):c.1A>G (p.Met1Val) rs886039545
NM_033022.3(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.3(RPS24):c.46C>T (p.Arg16Ter) rs104894189

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