ClinVar Miner

List of variants reported as benign for Diamond-Blackfan anemia 1 by Ambry Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001029.5(RPS26):c.327T>A (p.Arg109=) rs56696262 0.08189
NM_033022.4(RPS24):c.391-3C>A rs7899453 0.06807
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880 0.02525
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806 0.02253
NM_001014.5(RPS10):c.401-18C>T rs41269040 0.02247
NM_000969.5(RPL5):c.258T>C (p.Tyr86=) rs113792800 0.00472
NM_033022.4(RPS24):c.-8T>G rs185722293 0.00101
NM_000981.4(RPL19):c.190C>A (p.Arg64=) rs2228666
NM_001022.4(RPS19):c.356+18G>C rs61762294

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