ClinVar Miner

List of variants reported as likely benign for Diamond-Blackfan anemia 9

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001014.5(RPS10):c.1-18A>G rs115481077 0.00891
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753 0.00213
NM_001014.5(RPS10):c.6G>A (p.Leu2=) rs146246722 0.00063
NM_001014.5(RPS10):c.444C>T (p.Thr148=) rs149897629 0.00028
NM_001014.5(RPS10):c.351C>T (p.Leu117=) rs376353902 0.00013
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592 0.00007
NM_001014.5(RPS10):c.111C>G (p.Asp37Glu) rs374314919 0.00005
NM_001014.5(RPS10):c.204C>T (p.Tyr68=) rs368563040 0.00004
NM_001014.5(RPS10):c.432T>G (p.Ala144=) rs199758134 0.00004
NM_001014.5(RPS10):c.312T>A (p.Pro104=) rs775998609 0.00001

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