ClinVar Miner

List of variants reported as uncertain significance for Diamond-Blackfan anemia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 291
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HGVS dbSNP gnomAD frequency
NM_000969.5(RPL5):c.*1A>G rs11540833 0.00126
NM_000975.5(RPL11):c.396+9A>G rs201786327 0.00058
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_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406 0.00008
NM_000969.5(RPL5):c.691G>A (p.Val231Ile) rs568863745 0.00006
NM_001022.4(RPS19):c.208G>A (p.Ala70Thr) rs782368794 0.00006
NM_000996.4(RPL35A):c.12-5C>G rs541454864 0.00005
NM_001014.5(RPS10):c.400C>T (p.Pro134Ser) rs759213353 0.00004
NM_001014.5(RPS10):c.479G>A (p.Arg160His) rs139095177 0.00004
NM_001022.4(RPS19):c.10G>T (p.Val4Phe) rs782693679 0.00004
NM_000969.5(RPL5):c.269T>C (p.Val90Ala) rs775952185 0.00003
NM_000969.5(RPL5):c.320G>A (p.Arg107His) rs751845365 0.00003
NM_000969.5(RPL5):c.517A>G (p.Ile173Val) rs754245145 0.00003
NM_000969.5(RPL5):c.599T>C (p.Met200Thr) rs773325598 0.00003
NM_001014.5(RPS10):c.89C>T (p.Pro30Leu) rs755445102 0.00003
NM_033022.4(RPS24):c.122G>A (p.Arg41Gln) rs751857347 0.00003
NM_000969.5(RPL5):c.103C>T (p.Arg35Cys) rs772575122 0.00002
NM_000975.5(RPL11):c.452T>C (p.Ile151Thr) rs754966145 0.00002
NM_033022.4(RPS24):c.82C>G (p.Leu28Val) rs775383590 0.00002
NM_000969.5(RPL5):c.202C>T (p.Arg68Cys) rs750383596 0.00001
NM_000969.5(RPL5):c.229G>A (p.Ala77Thr) rs752867126 0.00001
NM_000969.5(RPL5):c.235T>A (p.Tyr79Asn) rs1043234543 0.00001
NM_000969.5(RPL5):c.266A>G (p.Lys89Arg) rs1314815534 0.00001
NM_000969.5(RPL5):c.587G>A (p.Arg196Gln) rs771013653 0.00001
NM_000969.5(RPL5):c.589A>G (p.Lys197Glu) rs776644546 0.00001
NM_000969.5(RPL5):c.625C>T (p.Arg209Cys) rs770095159 0.00001
NM_000969.5(RPL5):c.666G>C (p.Gln222His) rs767163981 0.00001
NM_000969.5(RPL5):c.803G>A (p.Arg268His) rs765443248 0.00001
NM_000975.5(RPL11):c.23A>G (p.Lys8Arg) rs760498453 0.00001
NM_000975.5(RPL11):c.454G>A (p.Gly152Arg) rs766991539 0.00001
NM_000975.5(RPL11):c.5C>T (p.Ala2Val) rs768850297 0.00001
NM_000987.5(RPL26):c.259C>T (p.Arg87Trp) rs878854147 0.00001
NM_000987.5(RPL26):c.97C>T (p.Pro33Ser) rs747386536 0.00001
NM_001011.4(RPS7):c.39C>T (p.Gly13=) rs746686516 0.00001
NM_001014.5(RPS10):c.164G>A (p.Arg55Gln) rs1765898082 0.00001
NM_001014.5(RPS10):c.40C>T (p.Leu14Phe) rs1426463647 0.00001
NM_001014.5(RPS10):c.425C>T (p.Ala142Val) rs1765648018 0.00001
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.259G>A (p.Val87Ile) rs782752734 0.00001
NM_033022.4(RPS24):c.23G>A (p.Arg8His) rs1291294524 0.00001
NM_033022.4(RPS24):c.279+2dup rs1459887559 0.00001
NM_033022.4(RPS24):c.390+3dup rs780893174 0.00001
NM_033022.4(RPS24):c.7G>A (p.Asp3Asn) rs772167568 0.00001
NM_033022.4(RPS24):c.91G>A (p.Gly31Arg) rs757084547 0.00001
NC_000001.10:g.(?_93306098)_(93307422_?)dup
NC_000006.11:g.(?_34385283)_(34392998_?)dup
NC_000010.10:g.(?_79795104)_(79799970_?)dup
NC_000017.10:g.(?_8131498)_(8285628_?)dup
NC_000017.10:g.(?_8192101)_(8283260_?)dup
NC_000017.10:g.(?_8280834)_(8283254_?)dup
NC_000017.11:g.(?_8228170)_(8382320_?)dup
NC_000019.9:g.(?_39904727)_(42931301_?)dup
NC_000019.9:g.(?_42363988)_(42364359_?)del
NM_000969.5(RPL5):c.161G>C (p.Arg54Pro)
NM_000969.5(RPL5):c.170A>G (p.Asn57Ser) rs1553285028
NM_000969.5(RPL5):c.179T>C (p.Ile60Thr)
NM_000969.5(RPL5):c.189+5G>A
NM_000969.5(RPL5):c.190-3T>C
NM_000969.5(RPL5):c.192T>G (p.Ile64Met)
NM_000969.5(RPL5):c.220A>G (p.Ile74Val)
NM_000969.5(RPL5):c.225C>G (p.Val75=) rs2100680579
NM_000969.5(RPL5):c.232G>A (p.Ala78Thr)
NM_000969.5(RPL5):c.233C>G (p.Ala78Gly)
NM_000969.5(RPL5):c.244G>A (p.Glu82Lys) rs587777117
NM_000969.5(RPL5):c.251C>G (p.Pro84Arg) rs970129317
NM_000969.5(RPL5):c.257A>G (p.Tyr86Cys)
NM_000969.5(RPL5):c.298T>G (p.Cys100Gly) rs2100680814
NM_000969.5(RPL5):c.3+3G>A
NM_000969.5(RPL5):c.3+3G>T rs200628272
NM_000969.5(RPL5):c.3+5G>A
NM_000969.5(RPL5):c.3+5G>C
NM_000969.5(RPL5):c.316G>A (p.Ala106Thr) rs1687056401
NM_000969.5(RPL5):c.319C>T (p.Arg107Cys)
NM_000969.5(RPL5):c.325-14G>A
NM_000969.5(RPL5):c.332A>G (p.Asn111Ser)
NM_000969.5(RPL5):c.335G>A (p.Arg112Lys)
NM_000969.5(RPL5):c.344T>C (p.Met115Thr) rs1687118423
NM_000969.5(RPL5):c.35A>G (p.Tyr12Cys) rs1686991615
NM_000969.5(RPL5):c.367G>C (p.Val123Leu)
NM_000969.5(RPL5):c.377C>T (p.Thr126Ile)
NM_000969.5(RPL5):c.391A>G (p.Asn131Asp)
NM_000969.5(RPL5):c.404T>C (p.Ile135Thr) rs771599532
NM_000969.5(RPL5):c.415C>T (p.Pro139Ser)
NM_000969.5(RPL5):c.419G>A (p.Gly140Asp) rs367631074
NM_000969.5(RPL5):c.427A>G (p.Thr143Ala)
NM_000969.5(RPL5):c.443C>T (p.Ala148Val)
NM_000969.5(RPL5):c.448C>T (p.Leu150Phe)
NM_000969.5(RPL5):c.556G>C (p.Glu186Gln)
NM_000969.5(RPL5):c.559A>C (p.Ser187Arg)
NM_000969.5(RPL5):c.566A>G (p.Glu189Gly)
NM_000969.5(RPL5):c.567A>C (p.Glu189Asp)
NM_000969.5(RPL5):c.583C>A (p.His195Asn)
NM_000969.5(RPL5):c.586C>T (p.Arg196Trp)
NM_000969.5(RPL5):c.598A>G (p.Met200Val)
NM_000969.5(RPL5):c.601G>A (p.Gly201Ser)
NM_000969.5(RPL5):c.611T>C (p.Val204Ala) rs1687176905
NM_000969.5(RPL5):c.613G>A (p.Ala205Thr) rs1571031819
NM_000969.5(RPL5):c.614C>G (p.Ala205Gly)
NM_000969.5(RPL5):c.626G>T (p.Arg209Leu)
NM_000969.5(RPL5):c.631T>A (p.Leu211Ile)
NM_000969.5(RPL5):c.674A>C (p.Gln225Pro) rs1687179289
NM_000969.5(RPL5):c.695C>T (p.Thr232Ile)
NM_000969.5(RPL5):c.700G>T (p.Asp234Tyr) rs938367538
NM_000969.5(RPL5):c.703A>G (p.Met235Val)
NM_000969.5(RPL5):c.705+4A>G
NM_000969.5(RPL5):c.705G>A (p.Met235Ile)
NM_000969.5(RPL5):c.718T>C (p.Tyr240His) rs2100696942
NM_000969.5(RPL5):c.761A>G (p.Glu254Gly)
NM_000969.5(RPL5):c.763AAG[1] (p.Lys256del) rs1571038275
NM_000969.5(RPL5):c.779A>C (p.Glu260Ala)
NM_000969.5(RPL5):c.785A>G (p.Lys262Arg)
NM_000969.5(RPL5):c.788A>G (p.Lys263Arg)
NM_000969.5(RPL5):c.831G>T (p.Lys277Asn)
NM_000969.5(RPL5):c.832G>A (p.Asp278Asn) rs764283613
NM_000969.5(RPL5):c.838G>A (p.Val280Ile) rs1687377449
NM_000969.5(RPL5):c.854C>A (p.Ala285Glu)
NM_000969.5(RPL5):c.856A>G (p.Ser286Gly)
NM_000969.5(RPL5):c.858C>T (p.Ser286=)
NM_000969.5(RPL5):c.868G>A (p.Ala290Thr) rs1060503545
NM_000969.5(RPL5):c.877C>T (p.Arg293Trp)
NM_000969.5(RPL5):c.889A>C (p.Ser297Arg)
NM_000969.5(RPL5):c.891C>A (p.Ser297Arg)
NM_000975.5(RPL11):c.142C>T (p.Pro48Ser)
NM_000975.5(RPL11):c.14A>G (p.Gln5Arg) rs775235867
NM_000975.5(RPL11):c.203T>C (p.Ile68Thr) rs1644517016
NM_000975.5(RPL11):c.214T>C (p.Cys72Arg)
NM_000975.5(RPL11):c.217A>G (p.Thr73Ala)
NM_000975.5(RPL11):c.236C>T (p.Ala79Val)
NM_000975.5(RPL11):c.264+3G>A
NM_000975.5(RPL11):c.264+4A>T
NM_000975.5(RPL11):c.269G>A (p.Arg90Gln) rs757131066
NM_000975.5(RPL11):c.325A>G (p.Ile109Val)
NM_000975.5(RPL11):c.38G>A (p.Arg13Gln)
NM_000975.5(RPL11):c.396+3A>G
NM_000975.5(RPL11):c.397-11_397-10delinsAT
NM_000975.5(RPL11):c.400C>A (p.Leu134Met) rs1644529675
NM_000975.5(RPL11):c.430AAG[1] (p.Lys145del)
NM_000975.5(RPL11):c.431A>G (p.Lys144Arg)
NM_000975.5(RPL11):c.437G>A (p.Arg146His)
NM_000975.5(RPL11):c.437G>T (p.Arg146Leu)
NM_000975.5(RPL11):c.463_508-69del
NM_000975.5(RPL11):c.478G>C (p.Glu160Gln)
NM_000975.5(RPL11):c.490C>T (p.Arg164Cys)
NM_000975.5(RPL11):c.4G>T (p.Ala2Ser) rs1553121574
NM_000975.5(RPL11):c.508-3C>G
NM_000975.5(RPL11):c.518T>A (p.Ile173Asn)
NM_000975.5(RPL11):c.53_58del (p.Arg18_Lys19del)
NM_000975.5(RPL11):c.6+3G>A
NM_000975.5(RPL11):c.68A>G (p.Asn23Ser) rs2124429076
NM_000975.5(RPL11):c.7-1G>T rs1644507858
NM_000975.5(RPL11):c.7C>G (p.Gln3Glu)
NM_000975.5(RPL11):c.9G>A (p.Gln3=)
NM_000987.5(RPL26):c.107A>T (p.Lys36Ile)
NM_000987.5(RPL26):c.130G>T (p.Val44Leu) rs2151675473
NM_000987.5(RPL26):c.133C>G (p.Arg45Gly)
NM_000987.5(RPL26):c.139A>G (p.Met47Val) rs2151675468
NM_000987.5(RPL26):c.145A>G (p.Ile49Val) rs1193599772
NM_000987.5(RPL26):c.168+4T>G
NM_000987.5(RPL26):c.251G>C (p.Arg84Pro)
NM_000987.5(RPL26):c.286C>T (p.His96Tyr)
NM_000987.5(RPL26):c.29A>C (p.Asp10Ala)
NM_000987.5(RPL26):c.309+13_309+14delinsCT
NM_000987.5(RPL26):c.313G>A (p.Val105Ile)
NM_000987.5(RPL26):c.332T>C (p.Leu111Pro)
NM_000987.5(RPL26):c.349A>C (p.Lys117Gln)
NM_000987.5(RPL26):c.352A>T (p.Ile118Phe)
NM_000987.5(RPL26):c.359A>G (p.Glu120Gly) rs1907207139
NM_000987.5(RPL26):c.361C>T (p.Arg121Trp) rs763691423
NM_000987.5(RPL26):c.371A>C (p.Lys124Thr)
NM_000987.5(RPL26):c.377G>A (p.Arg126His) rs932068728
NM_000987.5(RPL26):c.377G>C (p.Arg126Pro)
NM_000987.5(RPL26):c.382G>A (p.Val128Ile)
NM_000987.5(RPL26):c.388A>G (p.Lys130Glu)
NM_000987.5(RPL26):c.416C>T (p.Thr139Ile)
NM_000987.5(RPL26):c.436T>G (p.Ter146Glu)
NM_000987.5(RPL26):c.44G>T (p.Arg15Leu)
NM_000987.5(RPL26):c.58A>G (p.Asn20Asp)
NM_000987.5(RPL26):c.83A>G (p.Lys28Arg)
NM_000996.4(RPL35A):c.141C>G (p.Cys47Trp)
NM_000996.4(RPL35A):c.227G>A (p.Arg76Gln)
NM_000996.4(RPL35A):c.227G>C (p.Arg76Pro)
NM_000996.4(RPL35A):c.251T>A (p.Val84Asp)
NM_000996.4(RPL35A):c.308T>C (p.Val103Ala)
NM_001011.4(RPS7):c.357-3dup rs140914434
NM_001011.4(RPS7):c.398T>C (p.Leu133Ser)
NM_001011.4(RPS7):c.539T>A (p.Leu180His) rs1553343210
NM_001014.5(RPS10):c.-32del rs767826894
NM_001014.5(RPS10):c.-38_-37del rs1581933797
NM_001014.5(RPS10):c.106G>A (p.Ala36Thr)
NM_001014.5(RPS10):c.121C>A (p.Pro41Thr)
NM_001014.5(RPS10):c.134T>A (p.Val45Asp)
NM_001014.5(RPS10):c.136A>G (p.Met46Val)
NM_001014.5(RPS10):c.150+6_150+8del
NM_001014.5(RPS10):c.151-17A>G
NM_001014.5(RPS10):c.151-19G>A
NM_001014.5(RPS10):c.164G>T (p.Arg55Leu)
NM_001014.5(RPS10):c.19A>T (p.Asn7Tyr)
NM_001014.5(RPS10):c.202T>C (p.Tyr68His)
NM_001014.5(RPS10):c.222G>A (p.Glu74=) rs1581931578
NM_001014.5(RPS10):c.222G>C (p.Glu74Asp)
NM_001014.5(RPS10):c.22C>T (p.Arg8Trp)
NM_001014.5(RPS10):c.26T>C (p.Ile9Thr)
NM_001014.5(RPS10):c.282_284dup (p.Arg96_Ser97insArg)
NM_001014.5(RPS10):c.289_294dup (p.Arg98_Pro99insSerArg)
NM_001014.5(RPS10):c.291C>G (p.Ser97Arg)
NM_001014.5(RPS10):c.293G>A (p.Arg98His)
NM_001014.5(RPS10):c.294_314dup (p.Glu100_Pro106dup) rs1765891593
NM_001014.5(RPS10):c.313C>T (p.Arg105Trp)
NM_001014.5(RPS10):c.317C>T (p.Pro106Leu)
NM_001014.5(RPS10):c.322+3A>G rs556255412
NM_001014.5(RPS10):c.344C>T (p.Ala115Val)
NM_001014.5(RPS10):c.34T>C (p.Tyr12His) rs2113806064
NM_001014.5(RPS10):c.371G>A (p.Arg124Lys) rs757956413
NM_001014.5(RPS10):c.385C>T (p.Arg129Trp) rs752436029
NM_001014.5(RPS10):c.403G>T (p.Gly135Cys)
NM_001014.5(RPS10):c.409G>A (p.Asp137Asn)
NM_001014.5(RPS10):c.456+3_456+6del rs1765647224
NM_001014.5(RPS10):c.457A>G (p.Arg153Gly)
NM_001014.5(RPS10):c.463G>A (p.Gly155Arg)
NM_001014.5(RPS10):c.473G>A (p.Arg158His)
NM_001014.5(RPS10):c.481G>T (p.Gly161Cys)
NM_001014.5(RPS10):c.493C>G (p.Gln165Glu)
NM_001014.5(RPS10):c.98C>T (p.Pro33Leu)
NM_001022.4(RPS19):c.109G>T (p.Val37Phe)
NM_001022.4(RPS19):c.112A>C (p.Lys38Gln)
NM_001022.4(RPS19):c.145G>C (p.Asp49His)
NM_001022.4(RPS19):c.175_176delinsCT (p.Ser59Leu) rs1600621092
NM_001022.4(RPS19):c.182C>T (p.Ala61Val)
NM_001022.4(RPS19):c.199C>T (p.Arg67Trp)
NM_001022.4(RPS19):c.200G>A (p.Arg67Gln)
NM_001022.4(RPS19):c.214G>T (p.Val72Phe) rs1600621248
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.25G>A (p.Val9Met)
NM_001022.4(RPS19):c.266C>G (p.Pro89Arg)
NM_001022.4(RPS19):c.281G>A (p.Arg94Gln)
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)
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.356+5G>A
NM_001022.4(RPS19):c.357-3C>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.392T>G (p.Leu131Arg)
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+16G>C
NM_001022.4(RPS19):c.411+3A>G rs2123286000
NM_001022.4(RPS19):c.411+6G>T
NM_001022.4(RPS19):c.412-3C>T
NM_001022.4(RPS19):c.412-8_412-1dup rs2123290691
NM_001022.4(RPS19):c.49G>A (p.Ala17Thr)
NM_001022.4(RPS19):c.64C>T (p.Leu22Phe)
NM_001022.4(RPS19):c.71+12del rs886054470
NM_001022.4(RPS19):c.72-15C>G rs530537278
NM_001022.4(RPS19):c.72-9T>A
NM_001022.4(RPS19):c.80A>G (p.Lys27Arg)
NM_001029.5(RPS26):c.4-4G>T rs2136753773
NM_001029.5(RPS26):c.67T>C (p.Cys23Arg)
NM_033022.4(RPS24):c.155C>A (p.Pro52Gln)
NM_033022.4(RPS24):c.158A>T (p.Asp53Val)
NM_033022.4(RPS24):c.160G>A (p.Val54Ile)
NM_033022.4(RPS24):c.172T>C (p.Phe58Leu)
NM_033022.4(RPS24):c.20T>G (p.Ile7Ser) rs1554841961
NM_033022.4(RPS24):c.240T>G (p.Asp80Glu)
NM_033022.4(RPS24):c.271C>G (p.Leu91Val)
NM_033022.4(RPS24):c.275C>A (p.Ala92Glu)
NM_033022.4(RPS24):c.278G>A (p.Arg93Lys)
NM_033022.4(RPS24):c.280-11_280-10del rs756756010
NM_033022.4(RPS24):c.280C>T (p.His94Tyr)
NM_033022.4(RPS24):c.297G>C (p.Lys99Asn)
NM_033022.4(RPS24):c.320G>A (p.Arg107Gln)
NM_033022.4(RPS24):c.348A>G (p.Lys116=)
NM_033022.4(RPS24):c.352_354del (p.Arg118del) rs1847891159
NM_033022.4(RPS24):c.390+4T>C
NM_033022.4(RPS24):c.4-3C>T
NM_033022.4(RPS24):c.47G>C (p.Arg16Pro) rs199524789
NM_033022.4(RPS24):c.47G>T (p.Arg16Leu)
NM_033022.4(RPS24):c.82C>T (p.Leu28Phe) rs775383590
NM_033022.4(RPS24):c.86_103del (p.His29_Val35delinsLeu)
NM_033022.4(RPS24):c.97G>T (p.Ala33Ser)
NM_198535.3(ZNF699):c.175+1G>A rs749115647

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