ClinVar Miner

List of variants in gene combination DIPK1A, RPL5 reported as pathogenic for Diamond-Blackfan anemia 6

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406 0.00008
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_000969.5(RPL5):c.175_176del (p.Asp59fs) rs1571024430
NM_000969.5(RPL5):c.235dup (p.Tyr79fs) rs1571026775
NM_000969.5(RPL5):c.236del (p.Tyr79fs)
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) rs587777117
NM_000969.5(RPL5):c.268del (p.Val90fs) rs1687054029
NM_000969.5(RPL5):c.459_460insTGAA (p.Thr154Ter) rs1687123286
NM_000969.5(RPL5):c.664C>T (p.Gln222Ter) rs587777118
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) rs121434405
NM_000969.5(RPL5):c.692dup (p.Thr232fs) rs1571032029
NM_000969.5(RPL5):c.73+2T>G rs142156224

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