ClinVar Miner

List of variants reported as likely benign for Diamond-Blackfan anemia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001014.5(RPS10):c.-98T>C rs113071821 0.01181
NM_001014.4(RPS10):c.-43T>G rs111597547 0.01179
NM_007055.4(POLR3A):c.-35C>G rs201700756 0.00121
NM_033022.4(RPS24):c.-8T>G rs185722293 0.00101
NM_001022.4(RPS19):c.-10A>G rs564634801 0.00080
NM_001014.5(RPS10):c.6G>A (p.Leu2=) rs146246722 0.00063
NM_001022.4(RPS19):c.1-14A>G rs201317022 0.00044
NM_033022.3(RPS24):c.-50G>A rs190989611 0.00043
NM_000969.5(RPL5):c.-62C>G rs368663464 0.00032
NM_000975.5(RPL11):c.102G>A (p.Thr34=) rs199772693 0.00022
NM_001011.4(RPS7):c.-104G>A rs371620447 0.00022
NM_007055.4(POLR3A):c.-103T>A rs117201371 0.00011
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592 0.00007
NM_001022.4(RPS19):c.*54T>C rs527896025 0.00007
NM_000996.4(RPL35A):c.21C>T (p.Ser7=) rs145660527 0.00006
NM_001011.4(RPS7):c.75+13C>T rs751796318 0.00006
NM_001022.4(RPS19):c.183G>A (p.Ala61=) rs782727047 0.00006
NM_001029.5(RPS26):c.-33C>T rs372794158 0.00006
NM_001014.5(RPS10):c.111C>G (p.Asp37Glu) rs374314919 0.00005
NM_000969.5(RPL5):c.-6C>T rs199523145 0.00004
NM_001014.4(RPS10):c.-47A>G rs529023165 0.00004
NM_001022.4(RPS19):c.1-7C>T rs782801643 0.00003
NM_001022.4(RPS19):c.1-9C>A rs376460080 0.00002
NM_033022.4(RPS24):c.-23C>T rs766457744 0.00002
NM_001029.5(RPS26):c.291C>T (p.Pro97=) rs766621663 0.00001
NM_001029.5(RPS26):c.3+14C>T rs763770729 0.00001
NM_033022.4(RPS24):c.333G>A (p.Lys111=) rs144291219 0.00001
NM_000969.5(RPL5):c.-38C>T rs372080902
NM_000996.4(RPL35A):c.*21T>A rs199693579
NM_001011.4(RPS7):c.-109C>T rs142444366
NM_001011.4(RPS7):c.292-9A>T rs746941533
NM_001029.5(RPS26):c.-27C>T rs200831849
NM_001029.5(RPS26):c.-31C>T rs17118262
NM_001029.5(RPS26):c.-9G>T rs372708429
NM_001029.5(RPS26):c.3+7C>T rs115750993
NM_001029.5(RPS26):c.3+9T>A rs545595719
NM_033022.4(RPS24):c.-37C>T rs375555593
NM_033022.4(RPS24):c.3+15G>A rs764832484

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