ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 8
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NM_000969.5(RPL5):c.173_174GA[1] (p.Asp59fs) rs1571024430
NM_000969.5(RPL5):c.235dup (p.Tyr79fs) rs1571026775
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) rs587777117
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406
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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