List of variants in gene RPS24 reported as uncertain significance for Diamond-Blackfan anemia 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001142285.2(RPS24):c.811A>C (p.Ile271Leu)	rs74653472	0.00078
NM_001142285.2(RPS24):c.409G>A (p.Gly137Arg)	rs763683559	0.00019
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.91G>A (p.Gly31Arg)	rs757084547	0.00001
NM_001142285.2(RPS24):c.439G>A (p.Glu147Lys)	rs1848131795
NM_001142285.2(RPS24):c.522del (p.Pro173_Trp174insTer)
NM_001142285.2(RPS24):c.659C>T (p.Ala220Val)	rs530358175
NM_033022.4(RPS24):c.149C>G (p.Thr50Ser)
NM_033022.4(RPS24):c.155C>T (p.Pro52Leu)
NM_033022.4(RPS24):c.390+4T>C
NM_033022.4(RPS24):c.4-7T>C	rs1847840052

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