ClinVar Miner

List of variants in gene RPL26 studied for Diamond-Blackfan anemia 11

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Total variants: 9
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HGVS dbSNP gnomAD frequency
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.327A>G (p.Leu109=) rs755255765 0.00005
NM_000987.5(RPL26):c.-5-16_-5-15del rs533883480
NM_000987.5(RPL26):c.120_121del (p.Lys41fs) rs397518451
NM_000987.5(RPL26):c.168+6T>G
NM_000987.5(RPL26):c.341del (p.Asp114fs) rs2151671987
NM_000987.5(RPL26):c.377G>A (p.Arg126His) rs932068728

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