ClinVar Miner

List of variants reported as benign for Diamond-Blackfan anemia

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806
NM_000969.5(RPL5):c.258T>C (p.Tyr86=) rs113792800
NM_000969.5(RPL5):c.3+3G>C rs200628272
NM_000969.5(RPL5):c.325-4A>G rs183825489
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832
NM_000969.5(RPL5):c.794+121G>A rs10874744
NM_000975.5(RPL11):c.-37C>G rs10917413
NM_000975.5(RPL11):c.30C>T (p.Asn10=) rs139286202
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880
NM_000987.5(RPL26):c.96C>T (p.Ser32=) rs755369380
NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln) rs145244860
NM_001011.4(RPS7):c.-47G>T rs11558965
NM_001011.4(RPS7):c.357-3dup rs140914434
NM_001011.4(RPS7):c.508-12C>A rs2071639
NM_001014.4(RPS10):c.-58C>T rs78454682
NM_001014.5(RPS10):c.-1+218A>C rs4713778
NM_001014.5(RPS10):c.-37C>T rs9469779
NM_001014.5(RPS10):c.231G>A (p.Gln77=) rs147863199
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753
NM_001014.5(RPS10):c.6G>A (p.Leu2=) rs146246722
NM_001022.3(RPS19):c.-146_-145insGCCA rs34020014
NM_001022.3(RPS19):c.356+14A= rs1366610
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194
NM_001029.5(RPS26):c.-22C>G rs1131017
NM_001029.5(RPS26):c.-31C>G rs17118262
NM_001029.5(RPS26):c.327T>A (p.Arg109=) rs56696262
NM_002049.3(GATA1):c.113C>T (p.Pro38Leu) rs372131208
NM_002049.3(GATA1):c.163G>A (p.Ala55Thr) rs150572851
NM_002049.3(GATA1):c.212A>G (p.His71Arg) rs374300356
NM_002049.3(GATA1):c.64G>A (p.Ala22Thr) rs782188059
NM_033022.3(RPS24):c.-109A>G rs3740254
NM_033022.3(RPS24):c.177A>G (p.Gly59=) rs6496
NM_033022.3(RPS24):c.363A>G (p.Ala121=) rs139181869
NM_033022.3(RPS24):c.391-3C>A rs7899453

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