ClinVar Miner

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

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001022.4(RPS19):c.356+14= rs1366610 0.99999
NM_001022.4(RPS19):c.411+12G>A rs61762296 0.00287
NM_001022.3(RPS19):c.-234G>A rs142324259 0.00161
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
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.1-13C>T rs200634600 0.00028
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) rs143477104 0.00028
NM_001022.3(RPS19):c.-288A>C rs192556926 0.00024
NM_001022.3(RPS19):c.-50G>A rs886634767 0.00018
NM_001022.3(RPS19):c.-74C>T rs886054468 0.00006
NM_001022.4(RPS19):c.183G>A (p.Ala61=) rs782727047 0.00006
NM_001022.4(RPS19):c.1-7C>T rs782801643 0.00002
NM_001022.4(RPS19):c.1-9C>A rs376460080 0.00002
NM_001022.3(RPS19):c.-339T>C rs886054465 0.00001
NM_001022.4(RPS19):c.-1+14C>T rs886054469 0.00001
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+6T>A rs2074021759

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