ClinVar Miner

List of variants reported as likely benign for Diamond-Blackfan anemia 6

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806 0.02253
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_000969.5(RPL5):c.3+13C>T rs189107197 0.00165
NM_000969.5(RPL5):c.423C>T (p.Ala141=) rs138277390 0.00045
NM_000969.5(RPL5):c.3+12C>T rs200130961 0.00040
NM_000969.5(RPL5):c.-62C>G rs368663464 0.00032
NM_000969.5(RPL5):c.324+14G>T rs200772479 0.00030
NM_000969.5(RPL5):c.408T>C (p.Asp136=) rs142297836 0.00024
NM_000969.5(RPL5):c.141C>T (p.Pro47=) rs150375325 0.00018
NM_000969.5(RPL5):c.-6C>T rs199523145 0.00004
NM_000969.5(RPL5):c.794+8G>A rs907325546 0.00002
NM_000969.5(RPL5):c.309G>T (p.Leu103=) rs760490644 0.00001
NM_000969.5(RPL5):c.4-4T>C rs746944177 0.00001
NM_000969.5(RPL5):c.435T>C (p.Tyr145=) rs188046229 0.00001
NM_000969.5(RPL5):c.-38C>T rs372080902
NM_000969.5(RPL5):c.3+11G>A rs376414614
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu) rs11540836
NM_000969.5(RPL5):c.794+16_794+19del rs747509136
NM_000969.5(RPL5):c.794+19dup rs747509136

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