ClinVar Miner

List of variants in gene RPS19 studied for Diamond-Blackfan anemia 1

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Total variants: 58
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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_001022.4(RPS19):c.164C>T (p.Thr55Met) rs147508369 0.00039
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_001022.3(RPS19):c.-50G>A rs886634767 0.00019
NM_001022.4(RPS19):c.333A>G (p.Lys111=) rs781845960 0.00008
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.208G>A (p.Ala70Thr) rs782368794 0.00006
NM_001022.4(RPS19):c.411+19G>T rs782394063 0.00006
NM_001022.4(RPS19):c.72-17C>G rs150151184 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_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.356+12del rs781789110 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_001022.3(RPS19):c.1-231_173-3418del
NM_001022.3(RPS19):c.[43G>T;164C>T]
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.184C>T (p.Arg62Trp) rs104894711
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.250A>T (p.Arg84Ter) rs121908649
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) rs61762293
NM_001022.4(RPS19):c.295_296delinsCAGCCGA (p.Val99fs) rs2074119405
NM_001022.4(RPS19):c.296_297del (p.Val99fs) rs1555841356
NM_001022.4(RPS19):c.307del (p.Val103fs) rs786200935
NM_001022.4(RPS19):c.316del (p.Ala106fs)
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_001022.4(RPS19):c.356+3A>C rs1555841379
NM_001022.4(RPS19):c.367_368dup (p.Leu123_Thr124insTer) rs1568796003
NM_001022.4(RPS19):c.376C>T (p.Gln126Ter)
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu) rs786200936
NM_001022.4(RPS19):c.3G>T (p.Met1Ile) rs138938035
NM_001022.4(RPS19):c.403_404del (p.Ala135fs) rs2123285949
NM_001022.4(RPS19):c.71+6T>A rs2074021759
NM_001022.4(RPS19):c.71del (p.Lys24fs)
NM_001022.4(RPS19):c.72-15C>G rs530537278
NM_001022.4(RPS19):c.75C>T (p.Ser25=) rs370343297
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) rs104894716
NM_001022.4(RPS19):c.[134_135inv;138_139dup]

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