ClinVar Miner

List of variants in gene RPL26 studied for Diamond-Blackfan anemia 1

Included ClinVar conditions (3):
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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000987.5(RPL26):c.128A>G (p.Asn43Ser) rs149055327 0.00056
NM_000987.5(RPL26):c.168+17G>A rs368557278 0.00051
NM_000987.5(RPL26):c.342C>T (p.Asp114=) rs137965122 0.00018
NM_000987.5(RPL26):c.96C>T (p.Ser32=) rs755369380 0.00010
NM_000987.5(RPL26):c.288C>T (p.His96=) rs573206384 0.00005
NM_000987.5(RPL26):c.327A>G (p.Leu109=) rs755255765 0.00005
NM_000987.5(RPL26):c.169-5C>G rs746381469 0.00004
NM_000987.5(RPL26):c.153G>A (p.Lys51=) rs759269888 0.00002
NM_000987.5(RPL26):c.24T>C (p.Thr8=) rs750540417 0.00001
NM_000987.5(RPL26):c.255G>A (p.Val85=) rs758125897 0.00001
NM_000987.5(RPL26):c.259C>T (p.Arg87Trp) rs878854147 0.00001
NM_000987.5(RPL26):c.97C>T (p.Pro33Ser) rs747386536 0.00001
NC_000017.10:g.(?_8280834)_(8283254_?)dup
NM_000987.5(RPL26):c.105C>G (p.Ser35=)
NM_000987.5(RPL26):c.107A>T (p.Lys36Ile)
NM_000987.5(RPL26):c.130G>T (p.Val44Leu) rs2151675473
NM_000987.5(RPL26):c.133C>G (p.Arg45Gly)
NM_000987.5(RPL26):c.139A>G (p.Met47Val) rs2151675468
NM_000987.5(RPL26):c.145A>G (p.Ile49Val) rs1193599772
NM_000987.5(RPL26):c.15C>G (p.Pro5=)
NM_000987.5(RPL26):c.15C>T (p.Pro5=)
NM_000987.5(RPL26):c.168+11C>G
NM_000987.5(RPL26):c.168+15T>G
NM_000987.5(RPL26):c.168+18T>G
NM_000987.5(RPL26):c.168+4T>G
NM_000987.5(RPL26):c.169-16T>C
NM_000987.5(RPL26):c.169-19C>T
NM_000987.5(RPL26):c.180A>G (p.Gly60=)
NM_000987.5(RPL26):c.234T>C (p.Tyr78=)
NM_000987.5(RPL26):c.243C>T (p.Tyr81=)
NM_000987.5(RPL26):c.251G>C (p.Arg84Pro)
NM_000987.5(RPL26):c.276C>A (p.Gly92=)
NM_000987.5(RPL26):c.286C>T (p.His96Tyr)
NM_000987.5(RPL26):c.29A>C (p.Asp10Ala)
NM_000987.5(RPL26):c.300C>T (p.His100=)
NM_000987.5(RPL26):c.309+13G>T
NM_000987.5(RPL26):c.309+13_309+14delinsCT
NM_000987.5(RPL26):c.309+18T>C
NM_000987.5(RPL26):c.309+7G>T
NM_000987.5(RPL26):c.310-16dup
NM_000987.5(RPL26):c.313G>A (p.Val105Ile)
NM_000987.5(RPL26):c.332T>C (p.Leu111Pro)
NM_000987.5(RPL26):c.349A>C (p.Lys117Gln)
NM_000987.5(RPL26):c.352A>T (p.Ile118Phe)
NM_000987.5(RPL26):c.357C>G (p.Leu119=)
NM_000987.5(RPL26):c.359A>G (p.Glu120Gly) rs1907207139
NM_000987.5(RPL26):c.361C>T (p.Arg121Trp) rs763691423
NM_000987.5(RPL26):c.369C>T (p.Ala123=)
NM_000987.5(RPL26):c.371A>C (p.Lys124Thr)
NM_000987.5(RPL26):c.377G>A (p.Arg126His) rs932068728
NM_000987.5(RPL26):c.377G>C (p.Arg126Pro)
NM_000987.5(RPL26):c.382G>A (p.Val128Ile)
NM_000987.5(RPL26):c.384A>T (p.Val128=) rs201307266
NM_000987.5(RPL26):c.388A>G (p.Lys130Glu)
NM_000987.5(RPL26):c.408G>A (p.Lys136=)
NM_000987.5(RPL26):c.416C>T (p.Thr139Ile)
NM_000987.5(RPL26):c.426G>A (p.Lys142=)
NM_000987.5(RPL26):c.436T>G (p.Ter146Glu)
NM_000987.5(RPL26):c.44G>T (p.Arg15Leu)
NM_000987.5(RPL26):c.45C>T (p.Arg15=)
NM_000987.5(RPL26):c.58A>G (p.Asn20Asp)
NM_000987.5(RPL26):c.72C>T (p.His24=)
NM_000987.5(RPL26):c.83A>G (p.Lys28Arg)

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