ClinVar Miner

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

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_000969.5(RPL5):c.326T>C (p.Leu109Pro) rs878854146
NM_000969.5(RPL5):c.4-7_4-4del rs1558283792
NM_000975.5(RPL11):c.264+1G>A rs1553121795
NM_001022.4(RPS19):c.356+3A>C rs1555841379
NM_001022.4(RPS19):c.382C>T (p.Gln128Ter) rs1060503688
NM_001022.4(RPS19):c.72-1G>A
NM_001029.5(RPS26):c.220_221TG[2] (p.Val75fs) rs1555208596
NM_002049.3(GATA1):c.220+1G>C rs1569499366

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