ClinVar Miner

List of variants in gene RPS19 reported as uncertain significance for Diamond-Blackfan anemia 1

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001022.4(RPS19):c.164C>T (p.Thr55Met) rs147508369 0.00039
NM_001022.3(RPS19):c.-50G>A rs886634767 0.00019
NM_001022.3(RPS19):c.-74C>T rs886054468 0.00006
NM_001022.4(RPS19):c.208G>A (p.Ala70Thr) rs782368794 0.00006
NM_001022.3(RPS19):c.-339T>C rs886054465 0.00001
NM_001022.4(RPS19):c.-1+14C>T rs886054469 0.00001
NM_001022.4(RPS19):c.128A>G (p.Lys43Arg) rs1400674746 0.00001
NM_001022.4(RPS19):c.259G>A (p.Val87Ile) rs782752734 0.00001
NM_001022.4(RPS19):c.393G>A (p.Leu131=) rs1447794153 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.1-9C>T
NM_001022.4(RPS19):c.106A>G (p.Thr36Ala)
NM_001022.4(RPS19):c.124C>T (p.His42Tyr)
NM_001022.4(RPS19):c.172+5G>C rs886054471
NM_001022.4(RPS19):c.198C>T (p.Leu66=) rs1275070186
NM_001022.4(RPS19):c.1A>G (p.Met1Val) rs2123255913
NM_001022.4(RPS19):c.245G>A (p.Arg82His) rs782814286
NM_001022.4(RPS19):c.71+6T>A rs2074021759
NM_001022.4(RPS19):c.72-15C>G rs530537278

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