ClinVar Miner

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

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Total variants: 27
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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.691G>A (p.Val231Ile) rs568863745 0.00006
NM_000969.5(RPL5):c.228C>T (p.Cys76=) rs370284124 0.00005
NM_000969.5(RPL5):c.403A>G (p.Ile135Val) rs200075817 0.00004
NM_000969.5(RPL5):c.269T>C (p.Val90Ala) rs775952185 0.00003
NM_000969.5(RPL5):c.517A>G (p.Ile173Val) rs754245145 0.00003
NM_000969.5(RPL5):c.599T>C (p.Met200Thr) rs773325598 0.00003
NM_000969.5(RPL5):c.103C>T (p.Arg35Cys) rs772575122 0.00002
NM_000969.5(RPL5):c.202C>T (p.Arg68Cys) rs750383596 0.00001
NM_000969.5(RPL5):c.229G>A (p.Ala77Thr) rs752867126 0.00001
NM_000969.5(RPL5):c.235T>A (p.Tyr79Asn) rs1043234543 0.00001
NM_000969.5(RPL5):c.587G>A (p.Arg196Gln) rs771013653 0.00001
NM_000969.5(RPL5):c.625C>T (p.Arg209Cys) rs770095159 0.00001
NM_000969.5(RPL5):c.642A>T (p.Glu214Asp) rs764296257 0.00001
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_000969.5(RPL5):c.208G>A (p.Glu70Lys)
NM_000969.5(RPL5):c.236A>T (p.Tyr79Phe)
NM_000969.5(RPL5):c.344T>C (p.Met115Thr) rs1687118423
NM_000969.5(RPL5):c.4-10T>C rs1686989669
NM_000969.5(RPL5):c.400A>C (p.Ser134Arg) rs1687120549
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu) rs11540836
NM_000969.5(RPL5):c.528-1G>A
NM_000969.5(RPL5):c.559A>C (p.Ser187Arg)
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly) rs576330538
NM_000969.5(RPL5):c.715A>G (p.Met239Val)
NM_000969.5(RPL5):c.72A>G (p.Arg24=)
NM_000969.5(RPL5):c.890_893dup (p.Ter298=) rs1687379541

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