List of variants in gene RPS17 studied for Diamond-Blackfan anemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001021.6(RPS17):c.159T>C (p.Tyr53=)	rs6991	0.26313
NM_001021.6(RPS17):c.312A>G (p.Glu104=)	rs1049218128	0.02409
NM_001021.6(RPS17):c.390G>A (p.Thr130=)	rs1008996512	0.00009
NM_001021.6(RPS17):c.45C>T (p.Val15=)	rs909966027	0.00002
NM_001021.6(RPS17):c.39C>T (p.Ala13=)	rs1311301768	0.00001
NM_001021.6(RPS17):c.126C>T (p.Pro42=)	rs1488454011
NM_001021.6(RPS17):c.1A>G (p.Met1Val)	rs2548306778
NM_001021.6(RPS17):c.2T>G (p.Met1Arg)	rs116840811
NM_001021.6(RPS17):c.60del (p.Tyr21fs)	rs2548306430

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