ClinVar Miner

List of variants reported as benign for Diamond-Blackfan anemia 5

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000996.4(RPL35A):c.*14C>A rs10022 0.00200
NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln) rs145244860 0.00199
NM_000996.4(RPL35A):c.-32-3A>G rs200335648 0.00012
NM_000996.4(RPL35A):c.*6C>T rs116874993 0.00011
NM_000996.4(RPL35A):c.21C>T (p.Ser7=) rs145660527 0.00006
NM_000996.4(RPL35A):c.12-10del rs765692254
NM_000996.4(RPL35A):c.282T>C (p.Ala94=) rs201018840

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