ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001022.4(RPS19):c.356+14= rs1366610 0.99999
NM_001014.5(RPS10):c.-1+218A>C rs4713778 0.99812
NM_000975.4(RPL11):c.-37C>G rs10917413 0.98344
NM_000969.5(RPL5):c.794+121G>A rs10874744 0.58918
NM_001014.4(RPS10):c.-58C>T rs78454682 0.09137
NM_033022.3(RPS24):c.-109A>G rs3740254 0.03888
NC_000006.12:g.34426129A>G rs113071821 0.01181
NM_001014.4(RPS10):c.-43T>G rs111597547 0.01179
NM_001022.4(RPS19):c.411+12G>A rs61762296 0.00287
NM_001022.3(RPS19):c.-234G>A rs142324259 0.00161
NM_007055.4(POLR3A):c.-35C>G rs201700756 0.00121
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_033022.4(RPS24):c.-8T>G rs185722293 0.00101
NM_001022.4(RPS19):c.-10A>G rs564634801 0.00080
NM_001022.4(RPS19):c.1-14A>G rs201317022 0.00044
NM_001022.3(RPS19):c.-274T>C rs77406992 0.00036
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) rs143477104 0.00029
NM_001022.4(RPS19):c.1-13C>T rs200634600 0.00028
NM_001022.3(RPS19):c.-288A>C rs192556926 0.00024
NM_001011.4(RPS7):c.-104G>A rs371620447 0.00022
NM_001022.3(RPS19):c.-50G>A rs886634767 0.00019
NM_007055.4(POLR3A):c.-103T>A rs117201371 0.00011
NM_001022.4(RPS19):c.*54T>C rs527896025 0.00007
NM_001022.3(RPS19):c.-74C>T rs886054468 0.00006
NM_001022.4(RPS19):c.183G>A (p.Ala61=) rs782727047 0.00006
NM_001014.4(RPS10):c.-47A>G rs529023165 0.00004
NM_001022.4(RPS19):c.1-7C>T rs782801643 0.00002
NM_001022.4(RPS19):c.1-9C>A rs376460080 0.00002
NM_001011.4(RPS7):c.39C>T (p.Gly13=) rs746686516 0.00001
NM_001022.3(RPS19):c.-139C>T rs886054467 0.00001
NM_001022.3(RPS19):c.-339T>C rs886054465 0.00001
NM_001022.4(RPS19):c.-1+14C>T rs886054469 0.00001
NM_001011.4(RPS7):c.-109C>T rs142444366
NM_001014.5(RPS10):c.-32del rs767826894
NM_001014.5(RPS10):c.-38_-37del rs1581933797
NM_001022.3(RPS19):c.-146_-145insGCCA rs34020014
NM_001022.3(RPS19):c.-151G>T rs886054466
NM_001022.3(RPS19):c.-190C>G rs1053550637
NM_001022.4(RPS19):c.-26C>T rs2074012484
NM_001022.4(RPS19):c.172+5G>C rs886054471
NM_001022.4(RPS19):c.198C>T (p.Leu66=) rs1275070186
NM_001022.4(RPS19):c.357-5C>G rs782129469
NM_001022.4(RPS19):c.71+12del rs886054470
NM_001022.4(RPS19):c.71+6T>A rs2074021759
NM_033022.4(RPS24):c.280-11_280-10del rs756756010

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