ClinVar Miner

List of variants reported as pathogenic for Diamond-Blackfan anemia 5

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Total variants: 10
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 3q29(chr3:197681032-198111976)x1
NC_000003.12:g.(?_197950958)_(197955783_?)del
NC_000003.12:g.(?_197950962)_(197955779_?)del
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs) rs1560120302
NM_000996.4(RPL35A):c.147del (p.Ala48_Tyr49insTer)
NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter) rs1553811551
NM_000996.4(RPL35A):c.258del (p.Lys87fs) rs1581106084
NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter) rs116840809
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del) rs116840807
NM_000996.4(RPL35A):c.97G>A (p.Val33Ile) rs116840808

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