ClinVar Miner

List of variants in gene combination DIPK1A, RPL5 reported as uncertain significance for anemia (disease)

Included ClinVar conditions (281):
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_000969.5(RPL5):c.170A>G (p.Asn57Ser) rs1553285028
NM_000969.5(RPL5):c.202C>T (p.Arg68Cys) rs750383596
NM_000969.5(RPL5):c.228C>T (p.Cys76=) rs370284124
NM_000969.5(RPL5):c.229G>A (p.Ala77Thr) rs752867126
NM_000969.5(RPL5):c.235T>A (p.Tyr79Asn)
NM_000969.5(RPL5):c.269T>C (p.Val90Ala) rs775952185
NM_000969.5(RPL5):c.320G>A (p.Arg107His)
NM_000969.5(RPL5):c.35A>G (p.Tyr12Cys)
NM_000969.5(RPL5):c.4-10T>C
NM_000969.5(RPL5):c.400A>C (p.Ser134Arg)
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406
NM_000969.5(RPL5):c.613G>A (p.Ala205Thr) rs1571031819
NM_000969.5(RPL5):c.625C>T (p.Arg209Cys)
NM_000969.5(RPL5):c.642A>T (p.Glu214Asp)
NM_000969.5(RPL5):c.666G>C (p.Gln222His)
NM_000969.5(RPL5):c.674A>C (p.Gln225Pro)
NM_000969.5(RPL5):c.700G>T (p.Asp234Tyr) rs938367538
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly) rs576330538
NM_000969.5(RPL5):c.803G>A (p.Arg268His) rs765443248
NM_000969.5(RPL5):c.868G>A (p.Ala290Thr) rs1060503545

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