List of variants reported as pathogenic for Diamond-Blackfan anemia 12 by OMIM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001253384.2(RPL15):c.309+91_361-539del
NM_002948.5(RPL15):c.242dup (p.Tyr81Ter)	rs2471221205
NM_002948.5(RPL15):c.29T>C (p.Leu10Pro)	rs2471214224
NM_002948.5(RPL15):c.458A>C (p.Lys153Thr)	rs370700905
NM_002948.5(RPL15):c.85C>T (p.Gln29Ter)	rs2471214687

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