ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 162
Download table as spreadsheet
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_001022.4(RPS19):c.72-92A>G rs566047445 0.00146
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_001022.4(RPS19):c.164C>T (p.Thr55Met) rs147508369 0.00039
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) rs143477104 0.00029
NM_001022.4(RPS19):c.333A>G (p.Lys111=) rs781845960 0.00008
NM_001022.4(RPS19):c.356+13G>C rs781957086 0.00008
NM_001022.4(RPS19):c.*54T>C rs527896025 0.00007
NM_001022.4(RPS19):c.173-19C>G rs782495262 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.71+19G>A rs377615364 0.00006
NM_001022.4(RPS19):c.75C>G (p.Ser25=) rs370343297 0.00006
NM_001022.4(RPS19):c.10G>T (p.Val4Phe) rs782693679 0.00004
NM_001022.4(RPS19):c.192G>C (p.Leu64=) rs144069838 0.00004
NM_001022.4(RPS19):c.6T>G (p.Pro2=) rs782512026 0.00004
NM_001022.4(RPS19):c.72-17C>G rs150151184 0.00004
NM_001022.4(RPS19):c.255C>T (p.Asn85=) rs781860325 0.00003
NM_001022.4(RPS19):c.372A>T (p.Thr124=) rs782722836 0.00003
NM_001022.4(RPS19):c.411+6G>C rs138397598 0.00003
NM_001022.4(RPS19):c.87A>G (p.Lys29=) rs11540256 0.00002
NM_001022.3(RPS19):c.-139C>T rs886054467 0.00001
NM_001022.4(RPS19):c.128A>G (p.Lys43Arg) rs1400674746 0.00001
NM_001022.4(RPS19):c.173-9T>C rs782552614 0.00001
NM_001022.4(RPS19):c.24C>T (p.Asp8=) rs782536520 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_001022.4(RPS19):c.405C>T (p.Ala135=) rs550819306 0.00001
NM_001022.4(RPS19):c.93C>G (p.Pro31=) rs1318520916 0.00001
NC_000019.9:g.(?_42363988)_(42364359_?)del
NC_000019.9:g.(?_42363988)_(42364925_?)del
NC_000019.9:g.(?_42363988)_(42375445_?)del
NC_000019.9:g.(?_42373091)_(42375455_?)del
NM_001022.3(RPS19):c.-146_-145insGCCA rs34020014
NM_001022.4(RPS19):c.-1+26G>T rs74449035
NM_001022.4(RPS19):c.101del (p.Val34fs)
NM_001022.4(RPS19):c.108C>T (p.Thr36=)
NM_001022.4(RPS19):c.109G>T (p.Val37Phe)
NM_001022.4(RPS19):c.112A>C (p.Lys38Gln)
NM_001022.4(RPS19):c.114G>A (p.Lys38=)
NM_001022.4(RPS19):c.120C>G (p.Ala40=)
NM_001022.4(RPS19):c.132G>A (p.Glu44=)
NM_001022.4(RPS19):c.13dup (p.Thr5fs) rs149420497
NM_001022.4(RPS19):c.140C>T (p.Pro47Leu)
NM_001022.4(RPS19):c.141C>T (p.Pro47=)
NM_001022.4(RPS19):c.145G>C (p.Asp49His)
NM_001022.4(RPS19):c.159C>T (p.Phe53=)
NM_001022.4(RPS19):c.15T>A (p.Thr5=) rs2123256038
NM_001022.4(RPS19):c.162C>G (p.Tyr54Ter)
NM_001022.4(RPS19):c.165G>A (p.Thr55=)
NM_001022.4(RPS19):c.166C>T (p.Arg56Ter)
NM_001022.4(RPS19):c.167G>A (p.Arg56Gln)
NM_001022.4(RPS19):c.167G>T (p.Arg56Leu)
NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer) rs2074020491
NM_001022.4(RPS19):c.172+17T>C
NM_001022.4(RPS19):c.173-16C>T
NM_001022.4(RPS19):c.173-1G>T rs2123283622
NM_001022.4(RPS19):c.173-20C>G
NM_001022.4(RPS19):c.173-20C>T
NM_001022.4(RPS19):c.173-2A>G rs111833764
NM_001022.4(RPS19):c.173-6C>T
NM_001022.4(RPS19):c.173-8_173-7delinsTT rs2123283596
NM_001022.4(RPS19):c.175_176delinsCT (p.Ser59Leu) rs1600621092
NM_001022.4(RPS19):c.176C>T (p.Ser59Phe)
NM_001022.4(RPS19):c.182C>T (p.Ala61Val)
NM_001022.4(RPS19):c.183G>C (p.Ala61=)
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln) rs1555841301
NM_001022.4(RPS19):c.185G>C (p.Arg62Pro) rs1555841301
NM_001022.4(RPS19):c.191T>C (p.Leu64Pro)
NM_001022.4(RPS19):c.199C>T (p.Arg67Trp)
NM_001022.4(RPS19):c.1A>C (p.Met1Leu)
NM_001022.4(RPS19):c.200G>A (p.Arg67Gln)
NM_001022.4(RPS19):c.207C>T (p.Gly69=)
NM_001022.4(RPS19):c.213G>T (p.Gly71=)
NM_001022.4(RPS19):c.214G>T (p.Val72Phe) rs1600621248
NM_001022.4(RPS19):c.21del (p.Asp8fs)
NM_001022.4(RPS19):c.226A>G (p.Thr76Ala)
NM_001022.4(RPS19):c.245G>A (p.Arg82His) rs782814286
NM_001022.4(RPS19):c.245G>T (p.Arg82Leu)
NM_001022.4(RPS19):c.257dup (p.Val87fs) rs2074118749
NM_001022.4(RPS19):c.25G>A (p.Val9Met)
NM_001022.4(RPS19):c.266C>G (p.Pro89Arg)
NM_001022.4(RPS19):c.279C>T (p.Ser93=)
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) rs61762293
NM_001022.4(RPS19):c.281G>A (p.Arg94Gln)
NM_001022.4(RPS19):c.288C>G (p.Ser96=)
NM_001022.4(RPS19):c.288dup (p.Lys97fs)
NM_001022.4(RPS19):c.296_297dup (p.Ala100fs) rs1555841356
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)
NM_001022.4(RPS19):c.303C>T (p.Arg101=)
NM_001022.4(RPS19):c.305G>A (p.Arg102Gln)
NM_001022.4(RPS19):c.308T>A (p.Val103Asp) rs1131691437
NM_001022.4(RPS19):c.317C>T (p.Ala106Val) rs2074119741
NM_001022.4(RPS19):c.320T>C (p.Leu107Pro)
NM_001022.4(RPS19):c.328C>G (p.Leu110Val)
NM_001022.4(RPS19):c.330G>A (p.Leu110=) rs2123284228
NM_001022.4(RPS19):c.335TGG[1] (p.Val113del) rs1064794604
NM_001022.4(RPS19):c.342A>G (p.Glu114=)
NM_001022.4(RPS19):c.347del (p.Asp116fs)
NM_001022.4(RPS19):c.34C>T (p.Gln12Ter)
NM_001022.4(RPS19):c.356+12A>G
NM_001022.4(RPS19):c.356+13G>T
NM_001022.4(RPS19):c.356+14delinsGG
NM_001022.4(RPS19):c.356+15G>A
NM_001022.4(RPS19):c.356+169CT[2] rs369353222
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_001022.4(RPS19):c.356+18G>T rs61762294
NM_001022.4(RPS19):c.356+19G>A
NM_001022.4(RPS19):c.356+1G>A rs879993801
NM_001022.4(RPS19):c.356+5G>A
NM_001022.4(RPS19):c.358G>A (p.Gly120Ser)
NM_001022.4(RPS19):c.365A>G (p.Lys122Arg)
NM_001022.4(RPS19):c.368T>A (p.Leu123Gln)
NM_001022.4(RPS19):c.373C>A (p.Pro125Thr)
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu) rs786200936
NM_001022.4(RPS19):c.382C>T (p.Gln128Ter) rs1060503688
NM_001022.4(RPS19):c.384_385del (p.Asp130fs) rs869066130
NM_001022.4(RPS19):c.385dup (p.Arg129fs)
NM_001022.4(RPS19):c.392T>G (p.Leu131Arg)
NM_001022.4(RPS19):c.3G>A (p.Met1Ile) rs138938035
NM_001022.4(RPS19):c.3G>C (p.Met1Ile)
NM_001022.4(RPS19):c.3G>T (p.Met1Ile) rs138938035
NM_001022.4(RPS19):c.402C>T (p.Ile134=)
NM_001022.4(RPS19):c.406G>T (p.Gly136Ter) rs144337183
NM_001022.4(RPS19):c.409C>T (p.Gln137Ter)
NM_001022.4(RPS19):c.410A>G (p.Gln137Arg) rs782608155
NM_001022.4(RPS19):c.411+11C>T
NM_001022.4(RPS19):c.411+16G>C
NM_001022.4(RPS19):c.411+19G>A
NM_001022.4(RPS19):c.411+20T>G
NM_001022.4(RPS19):c.411+2_411+6del
NM_001022.4(RPS19):c.411+3A>G rs2123286000
NM_001022.4(RPS19):c.411+6G>T
NM_001022.4(RPS19):c.412-2A>G
NM_001022.4(RPS19):c.412-3C>T
NM_001022.4(RPS19):c.412-8_412-1dup rs2123290691
NM_001022.4(RPS19):c.416_423delinsGAAGCATTAG (p.Ala139fs)
NM_001022.4(RPS19):c.49G>A (p.Ala17Thr)
NM_001022.4(RPS19):c.52C>T (p.Leu18=)
NM_001022.4(RPS19):c.53T>C (p.Leu18Pro) rs2074021310
NM_001022.4(RPS19):c.57A>G (p.Ala19=) rs2123256237
NM_001022.4(RPS19):c.58_61dup (p.Phe21fs) rs2123256254
NM_001022.4(RPS19):c.64C>T (p.Leu22Phe)
NM_001022.4(RPS19):c.71+12del rs886054470
NM_001022.4(RPS19):c.71+18G>A
NM_001022.4(RPS19):c.71+1G>C rs2123256342
NM_001022.4(RPS19):c.72-10T>G rs1176399879
NM_001022.4(RPS19):c.72-15C>G rs530537278
NM_001022.4(RPS19):c.72-15C>T
NM_001022.4(RPS19):c.72-1G>A rs146366047
NM_001022.4(RPS19):c.72-9T>A
NM_001022.4(RPS19):c.75C>T (p.Ser25=) rs370343297
NM_001022.4(RPS19):c.79A>T (p.Lys27Ter)
NM_001022.4(RPS19):c.80A>G (p.Lys27Arg)
NM_001022.4(RPS19):c.90C>G (p.Val30=)
NM_001022.4(RPS19):c.94G>T (p.Glu32Ter)
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) rs104894716
NM_001022.4(RPS19):c.99G>A (p.Trp33Ter) rs2074026880

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.