ClinVar Miner

List of variants reported as likely benign for Diamond-Blackfan anemia 1

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832 0.00574
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_001022.4(RPS19):c.-10A>G rs564634801 0.00080
NM_001022.4(RPS19):c.1-14A>G rs201317022 0.00044
NM_001022.4(RPS19):c.1-13C>T rs200634600 0.00028
NM_001022.4(RPS19):c.333A>G (p.Lys111=) rs781845960 0.00008
NM_001022.4(RPS19):c.183G>A (p.Ala61=) rs782727047 0.00006
NM_001022.4(RPS19):c.411+19G>T rs782394063 0.00006
NM_001022.4(RPS19):c.72-17C>G rs150151184 0.00004
NM_001022.4(RPS19):c.1-7C>T rs782801643 0.00003
NM_001022.4(RPS19):c.1-9C>A rs376460080 0.00002
NM_001022.4(RPS19):c.356+12del rs781789110 0.00001
NM_001022.4(RPS19):c.75C>T (p.Ser25=) rs370343297

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