List of variants reported as pathogenic for Diamond-Blackfan anemia 4

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1
NG_009890.2:g.(5565_6559)_(8796_9460)del
NM_001021.6(RPS17):c.159T>G (p.Tyr53Ter)	rs6991
NM_001021.6(RPS17):c.201_202del (p.Gly68fs)	rs116840812
NM_001021.6(RPS17):c.2T>G (p.Met1Arg)	rs116840811

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