ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 4

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001021.6(RPS17):c.312A>G (p.Glu104=) rs1049218128 0.02409
NM_001021.6(RPS17):c.328-7G>A rs975130647 0.00215
GRCh38/hg38 15q25.2(chr15:82130136-82727529)x1
NG_009890.2:g.(5565_6559)_(8796_9460)del
NM_001021.6(RPS17):c.156-1G>A
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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