ClinVar Miner

List of variants in gene DIPK1A, RPL5 studied for anemia (disease)

Included ClinVar conditions (263):
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Total variants: 38
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HGVS dbSNP
NC_000001.10:g.(?_93297666)_(93299223_?)del
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter) rs1060503527
NM_000969.5(RPL5):c.157_169dup (p.Asn57fs)
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_000969.5(RPL5):c.170A>G (p.Asn57Ser) rs1553285028
NM_000969.5(RPL5):c.173_174GA[1] (p.Asp59fs)
NM_000969.5(RPL5):c.187C>T (p.Gln63Ter) rs1558284062
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)
NM_000969.5(RPL5):c.235dup (p.Tyr79fs)
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) rs587777117
NM_000969.5(RPL5):c.256dup (p.Tyr86fs) rs1553121909
NM_000969.5(RPL5):c.258T>C (p.Tyr86=) rs113792800
NM_000969.5(RPL5):c.269T>C (p.Val90Ala)
NM_000969.5(RPL5):c.325-11T>G rs145058455
NM_000969.5(RPL5):c.325-4A>G rs183825489
NM_000969.5(RPL5):c.326T>C (p.Leu109Pro) rs878854146
NM_000969.5(RPL5):c.4-7_4-4del rs1558283792
NM_000969.5(RPL5):c.403A>G (p.Ile135Val) rs200075817
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu) rs11540836
NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter)
NM_000969.5(RPL5):c.613G>A (p.Ala205Thr)
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832
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.700G>T (p.Asp234Tyr) rs938367538
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly)
NM_000969.5(RPL5):c.70C>T (p.Arg24Ter) rs1558283853
NM_000969.5(RPL5):c.73+2T>G
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_000969.5(RPL5):c.781G>C (p.Val261Leu) rs773839391
NM_000969.5(RPL5):c.803G>A (p.Arg268His)
NM_000969.5(RPL5):c.846A>G (p.Gln282=) rs376641112
NM_000969.5(RPL5):c.868G>A (p.Ala290Thr) rs1060503545

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