List of variants reported as likely pathogenic for Diamond-Blackfan anemia by Invitae

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NC_000006.12:g.(?_34417506)_(34421817_?)del
NM_000969.5(RPL5):c.190-7_190-2del	rs1064796479
NM_000969.5(RPL5):c.326T>C (p.Leu109Pro)	rs878854146
NM_000969.5(RPL5):c.4-10T>A	rs1686989669
NM_000969.5(RPL5):c.4-1G>A
NM_000969.5(RPL5):c.527+1G>T	rs2100685111
NM_000969.5(RPL5):c.74-2A>G	rs2100676852
NM_000969.5(RPL5):c.74-2del
NM_000975.5(RPL11):c.136_157+26del	rs2124429146
NM_000975.5(RPL11):c.264+1G>A	rs1553121795
NM_000975.5(RPL11):c.265-2A>G	rs2124430919
NM_000975.5(RPL11):c.296_298del (p.Phe99del)	rs1553121852
NM_000975.5(RPL11):c.465_466del (p.His155fs)	rs1644530053
NM_001014.5(RPS10):c.401-2A>G	rs1765648528
NM_001022.4(RPS19):c.356+1G>A	rs879993801
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu)	rs786200936
NM_001022.4(RPS19):c.382C>T (p.Gln128Ter)	rs1060503688
NM_001022.4(RPS19):c.71+1G>C	rs2123256342
NM_001022.4(RPS19):c.72-1G>A	rs146366047

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