ClinVar Miner

List of variants reported as likely benign for Diamond-Blackfan anemia

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 624
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001021.6(RPS17):c.159T>C (p.Tyr53=) rs6991 0.25775
NM_001021.6(RPS17):c.312A>G (p.Glu104=) rs1049218128 0.02409
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806 0.02253
NM_001014.5(RPS10):c.-98T>C rs113071821 0.01181
NM_001014.4(RPS10):c.-43T>G rs111597547 0.01179
NM_001014.5(RPS10):c.1-18A>G rs115481077 0.00891
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832 0.00574
NM_058163.3(TSR2):c.234T>C (p.Asp78=) rs36032873 0.00445
NM_033022.4(RPS24):c.*11G>A rs139289215 0.00319
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_033022.4(RPS24):c.168T>C (p.Phe56=) rs57866839 0.00267
NM_001021.6(RPS17):c.328-7G>A rs975130647 0.00215
NM_001014.5(RPS10):c.408C>T (p.Ala136=) rs147566753 0.00213
NM_000996.4(RPL35A):c.*14C>A rs10022 0.00200
NM_000975.5(RPL11):c.7-20G>T rs142110379 0.00180
NM_000969.5(RPL5):c.325-11T>G rs145058455 0.00169
NM_000969.5(RPL5):c.3+13C>T rs189107197 0.00165
NM_001022.4(RPS19):c.72-92A>G rs566047445 0.00146
NM_001014.5(RPS10):c.231G>A (p.Gln77=) rs147863199 0.00125
NM_007055.4(POLR3A):c.-35C>G rs201700756 0.00121
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_033022.4(RPS24):c.-8T>G rs185722293 0.00101
NM_033022.4(RPS24):c.371A>G (p.Asn124Ser) rs147128920 0.00081
NM_001022.4(RPS19):c.-10A>G rs564634801 0.00080
NM_000975.5(RPL11):c.30C>T (p.Asn10=) rs139286202 0.00076
NM_000981.4(RPL19):c.222G>A (p.Arg74=) rs201777990 0.00073
NM_001014.5(RPS10):c.6G>A (p.Leu2=) rs146246722 0.00063
NM_000975.5(RPL11):c.396+9A>G rs201786327 0.00058
NM_000987.5(RPL26):c.128A>G (p.Asn43Ser) rs149055327 0.00056
NM_001029.5(RPS26):c.-3A>G rs181174349 0.00056
NM_000987.5(RPL26):c.168+17G>A rs368557278 0.00051
NM_000969.5(RPL5):c.423C>T (p.Ala141=) rs138277390 0.00045
NM_001022.4(RPS19):c.1-14A>G rs201317022 0.00044
NM_033022.3(RPS24):c.-50G>A rs190989611 0.00043
NM_000996.4(RPL35A):c.165-16C>A rs373782117 0.00041
NM_000969.5(RPL5):c.3+12C>T rs200130961 0.00040
NM_000981.4(RPL19):c.369G>A (p.Leu123=) rs370663313 0.00040
NM_033022.4(RPS24):c.378T>G (p.Gly126=) rs151246531 0.00039
NM_000975.5(RPL11):c.171C>G (p.Val57=) rs149087936 0.00035
NM_000969.5(RPL5):c.-62C>G rs368663464 0.00032
NM_000969.5(RPL5):c.324+14G>T rs200772479 0.00030
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) rs143477104 0.00029
NM_001014.5(RPS10):c.444C>T (p.Thr148=) rs149897629 0.00028
NM_001022.4(RPS19):c.1-13C>T rs200634600 0.00028
NM_000975.5(RPL11):c.153C>T (p.Ser51=) rs80133698 0.00025
NM_033022.4(RPS24):c.306C>T (p.Thr102=) rs558975561 0.00025
NM_000969.5(RPL5):c.408T>C (p.Asp136=) rs142297836 0.00024
NM_000975.5(RPL11):c.102G>A (p.Thr34=) rs199772693 0.00022
NM_001011.4(RPS7):c.-104G>A rs371620447 0.00022
NM_000975.5(RPL11):c.397-4A>G rs371228733 0.00021
NM_000969.5(RPL5):c.141C>T (p.Pro47=) rs150375325 0.00018
NM_000987.5(RPL26):c.342C>T (p.Asp114=) rs137965122 0.00018
NM_033022.4(RPS24):c.90C>T (p.Pro30=) rs372043585 0.00017
NM_000975.5(RPL11):c.213C>T (p.His71=) rs562572818 0.00016
NM_033022.4(RPS24):c.235C>T (p.Leu79=) rs192994060 0.00016
NM_033022.4(RPS24):c.189T>C (p.His63=) rs201805132 0.00015
NM_001014.5(RPS10):c.351C>T (p.Leu117=) rs376353902 0.00013
NM_007055.4(POLR3A):c.-103T>A rs117201371 0.00011
NM_000987.5(RPL26):c.96C>T (p.Ser32=) rs755369380 0.00010
NM_001011.4(RPS7):c.102G>A (p.Ser34=) rs754617897 0.00010
NM_001011.4(RPS7):c.357-10A>G rs202032908 0.00009
NM_001014.5(RPS10):c.261G>A (p.Pro87=) rs781484971 0.00008
NM_001022.4(RPS19):c.333A>G (p.Lys111=) rs781845960 0.00008
NM_001022.4(RPS19):c.356+13G>C rs781957086 0.00008
NM_001029.5(RPS26):c.63T>A (p.Ile21=) rs148167449 0.00008
NM_000996.4(RPL35A):c.12-18G>A rs373448841 0.00007
NM_001014.5(RPS10):c.103C>T (p.Leu35=) rs143557454 0.00007
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592 0.00007
NM_001022.4(RPS19):c.*54T>C rs527896025 0.00007
NM_000975.5(RPL11):c.158-7C>T rs768654673 0.00006
NM_000975.5(RPL11):c.300A>G (p.Ser100=) rs372622822 0.00006
NM_000975.5(RPL11):c.378C>T (p.Tyr126=) rs774450430 0.00006
NM_000996.4(RPL35A):c.21C>T (p.Ser7=) rs145660527 0.00006
NM_001011.4(RPS7):c.148-6C>T rs533287773 0.00006
NM_001011.4(RPS7):c.75+13C>T rs751796318 0.00006
NM_001022.4(RPS19):c.183G>A (p.Ala61=) rs782727047 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_001029.5(RPS26):c.-33C>T rs372794158 0.00006
NM_002049.4(GATA1):c.480T>C (p.Asn160=) rs143332634 0.00006
NM_000969.5(RPL5):c.228C>T (p.Cys76=) rs370284124 0.00005
NM_000987.5(RPL26):c.288C>T (p.His96=) rs573206384 0.00005
NM_000987.5(RPL26):c.327A>G (p.Leu109=) rs755255765 0.00005
NM_000996.4(RPL35A):c.12-5C>G rs541454864 0.00005
NM_001011.4(RPS7):c.543G>A (p.Thr181=) rs776954129 0.00005
NM_001014.5(RPS10):c.111C>G (p.Asp37Glu) rs374314919 0.00005
NM_001022.4(RPS19):c.357-17C>T rs782356785 0.00005
NM_001029.5(RPS26):c.60T>A (p.Pro20=) rs368838700 0.00005
NM_000969.5(RPL5):c.-6C>T rs199523145 0.00004
NM_000969.5(RPL5):c.403A>G (p.Ile135Val) rs200075817 0.00004
NM_000969.5(RPL5):c.781G>C (p.Val261Leu) rs773839391 0.00004
NM_000975.5(RPL11):c.117G>A (p.Val39=) rs746752024 0.00004
NM_000975.5(RPL11):c.6+16C>T rs369905301 0.00004
NM_000975.5(RPL11):c.6+8G>C rs201469553 0.00004
NM_000987.5(RPL26):c.169-5C>G rs746381469 0.00004
NM_001011.4(RPS7):c.285C>T (p.Ile95=) rs368931076 0.00004
NM_001011.4(RPS7):c.435C>T (p.Arg145=) rs142207795 0.00004
NM_001014.4(RPS10):c.-47A>G rs529023165 0.00004
NM_001014.5(RPS10):c.204C>T (p.Tyr68=) rs368563040 0.00004
NM_001014.5(RPS10):c.400+17C>G rs766650777 0.00004
NM_001014.5(RPS10):c.432T>G (p.Ala144=) rs199758134 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_001029.5(RPS26):c.270A>G (p.Glu90=) rs139056836 0.00004
NM_002049.4(GATA1):c.621C>T (p.Cys207=) rs782785151 0.00004
NM_002049.4(GATA1):c.870+8C>T rs370706809 0.00004
NM_033022.4(RPS24):c.276A>T (p.Ala92=) rs763876559 0.00004
NM_033022.4(RPS24):c.391-14C>T rs201639485 0.00004
NM_033022.4(RPS24):c.69+10G>A rs767375848 0.00004
NM_000996.4(RPL35A):c.184G>T (p.Gly62Cys) rs146882967 0.00003
NM_000996.4(RPL35A):c.327G>A (p.Arg109=) rs754407977 0.00003
NM_001011.4(RPS7):c.63C>T (p.Ser21=) rs145376788 0.00003
NM_001022.4(RPS19):c.1-7C>T rs782801643 0.00003
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_001029.5(RPS26):c.181+10T>G rs201191387 0.00003
NM_002049.4(GATA1):c.220+17G>T rs782352992 0.00003
NM_002049.4(GATA1):c.237A>G (p.Pro79=) rs1557020162 0.00003
NM_002049.4(GATA1):c.266G>A (p.Gly89Glu) rs781920985 0.00003
NM_033022.4(RPS24):c.12C>T (p.Thr4=) rs769340744 0.00003
NM_033022.4(RPS24):c.21C>T (p.Ile7=) rs762233086 0.00003
NM_000969.5(RPL5):c.156A>C (p.Ile52=) rs753968704 0.00002
NM_000969.5(RPL5):c.324+12A>T rs781444582 0.00002
NM_000969.5(RPL5):c.519C>T (p.Ile173=) rs755317830 0.00002
NM_000969.5(RPL5):c.690C>T (p.Ser230=) rs766117227 0.00002
NM_000969.5(RPL5):c.794+8G>A rs907325546 0.00002
NM_000975.5(RPL11):c.258T>G (p.Gly86=) rs760885169 0.00002
NM_000975.5(RPL11):c.33C>T (p.Pro11=) rs764637448 0.00002
NM_000975.5(RPL11):c.507+8T>C rs757566843 0.00002
NM_000987.5(RPL26):c.153G>A (p.Lys51=) rs759269888 0.00002
NM_000996.4(RPL35A):c.164+18G>A rs749642279 0.00002
NM_001011.4(RPS7):c.264T>C (p.Ser88=) rs1244488439 0.00002
NM_001014.5(RPS10):c.135C>T (p.Val45=) rs148901210 0.00002
NM_001014.5(RPS10):c.171C>T (p.Tyr57=) rs751801707 0.00002
NM_001022.4(RPS19):c.1-9C>A rs376460080 0.00002
NM_001022.4(RPS19):c.87A>G (p.Lys29=) rs11540256 0.00002
NM_001029.5(RPS26):c.207G>C (p.Val69=) rs776240183 0.00002
NM_002049.4(GATA1):c.1041G>A (p.Gly347=) rs1412419664 0.00002
NM_002049.4(GATA1):c.220+12G>A rs2062674583 0.00002
NM_002049.4(GATA1):c.360C>T (p.Ala120=) rs782008052 0.00002
NM_002049.4(GATA1):c.534C>A (p.Ser178Arg) rs782193818 0.00002
NM_002049.4(GATA1):c.740G>A (p.Arg247His) rs782534643 0.00002
NM_002049.4(GATA1):c.822T>C (p.Ser274=) rs781852329 0.00002
NM_033022.4(RPS24):c.-23C>T rs766457744 0.00002
NM_033022.4(RPS24):c.60G>A (p.Arg20=) rs751090185 0.00002
NM_033022.4(RPS24):c.6C>T (p.Asn2=) rs746098498 0.00002
NM_000969.5(RPL5):c.18T>A (p.Val6=) rs768965548 0.00001
NM_000969.5(RPL5):c.204T>A (p.Arg68=) rs1031900489 0.00001
NM_000969.5(RPL5):c.307C>T (p.Leu103=) rs574546327 0.00001
NM_000969.5(RPL5):c.309G>T (p.Leu103=) rs760490644 0.00001
NM_000969.5(RPL5):c.381T>A (p.Gly127=) rs1251386648 0.00001
NM_000969.5(RPL5):c.384T>C (p.Asp128=) rs749814264 0.00001
NM_000969.5(RPL5):c.4-4T>C rs746944177 0.00001
NM_000969.5(RPL5):c.435T>C (p.Tyr145=) rs188046229 0.00001
NM_000969.5(RPL5):c.527+10C>T rs779348774 0.00001
NM_000969.5(RPL5):c.657C>T (p.Tyr219=) rs1481353859 0.00001
NM_000975.5(RPL11):c.24G>A (p.Lys8=) rs143617222 0.00001
NM_000975.5(RPL11):c.264+9A>T rs777041270 0.00001
NM_000975.5(RPL11):c.306T>C (p.Thr102=) rs886046309 0.00001
NM_000975.5(RPL11):c.72C>T (p.Ile24=) rs781675016 0.00001
NM_000981.4(RPL19):c.93A>G (p.Glu31=) rs377198587 0.00001
NM_000987.5(RPL26):c.24T>C (p.Thr8=) rs750540417 0.00001
NM_000987.5(RPL26):c.255G>A (p.Val85=) rs758125897 0.00001
NM_000996.4(RPL35A):c.11+11T>C rs766619628 0.00001
NM_000996.4(RPL35A):c.11+17T>C rs780298603 0.00001
NM_000996.4(RPL35A):c.12-13T>A rs778146996 0.00001
NM_000996.4(RPL35A):c.141C>T (p.Cys47=) rs1440792535 0.00001
NM_000996.4(RPL35A):c.57G>A (p.Arg19=) rs769775044 0.00001
NM_001011.4(RPS7):c.126G>A (p.Glu42=) rs777387773 0.00001
NM_001011.4(RPS7):c.301C>T (p.Leu101=) rs1001502341 0.00001
NM_001011.4(RPS7):c.378C>T (p.His126=) rs764498089 0.00001
NM_001011.4(RPS7):c.39C>T (p.Gly13=) rs746686516 0.00001
NM_001011.4(RPS7):c.462A>T (p.Ile154=) rs1478289413 0.00001
NM_001011.4(RPS7):c.525T>G (p.Gly175=) rs1392470365 0.00001
NM_001011.4(RPS7):c.66C>T (p.Gly22=) rs773617808 0.00001
NM_001014.5(RPS10):c.186T>C (p.Phe62=) rs753811128 0.00001
NM_001014.5(RPS10):c.189C>T (p.Ala63=) rs772715124 0.00001
NM_001014.5(RPS10):c.312T>A (p.Pro104=) rs775998609 0.00001
NM_001014.5(RPS10):c.322+15C>G rs770954930 0.00001
NM_001014.5(RPS10):c.322+16A>G rs747142176 0.00001
NM_001014.5(RPS10):c.323-4A>G rs200083898 0.00001
NM_001014.5(RPS10):c.360G>A (p.Gly120=) rs763715001 0.00001
NM_001014.5(RPS10):c.401-17G>A rs753421531 0.00001
NM_001022.4(RPS19):c.24C>T (p.Asp8=) rs782536520 0.00001
NM_001022.4(RPS19):c.356+12del rs781789110 0.00001
NM_001022.4(RPS19):c.357-6C>T rs529093944 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
NM_001029.5(RPS26):c.291C>T (p.Pro97=) rs766621663 0.00001
NM_001029.5(RPS26):c.3+14C>T rs763770729 0.00001
NM_001029.5(RPS26):c.3+20G>C rs759864837 0.00001
NM_001029.5(RPS26):c.315T>A (p.Gly105=) rs554297156 0.00001
NM_001029.5(RPS26):c.42C>T (p.Gly14=) rs771196681 0.00001
NM_001029.5(RPS26):c.69C>T (p.Cys23=) rs986563758 0.00001
NM_001029.5(RPS26):c.81C>T (p.Ala27=) rs773982358 0.00001
NM_001029.5(RPS26):c.93C>T (p.Pro31=) rs760255764 0.00001
NM_002049.4(GATA1):c.1029C>T (p.Ser343=) rs1557020591 0.00001
NM_002049.4(GATA1):c.150G>A (p.Pro50=) rs782678694 0.00001
NM_002049.4(GATA1):c.192G>A (p.Arg64=) rs781912832 0.00001
NM_002049.4(GATA1):c.216C>T (p.Ser72=) rs1180375270 0.00001
NM_002049.4(GATA1):c.220+10T>C rs782691816 0.00001
NM_002049.4(GATA1):c.282C>T (p.Ala94=) rs782123071 0.00001
NM_002049.4(GATA1):c.397C>T (p.Leu133=) rs1557020203 0.00001
NM_002049.4(GATA1):c.599-13T>C rs1557020294 0.00001
NM_002049.4(GATA1):c.798G>A (p.Thr266=) rs184692721 0.00001
NM_002049.4(GATA1):c.949C>A (p.Arg317=) rs781964937 0.00001
NM_033022.4(RPS24):c.234C>T (p.Ser78=) rs1177372076 0.00001
NM_033022.4(RPS24):c.264A>G (p.Lys88=) rs1476221269 0.00001
NM_033022.4(RPS24):c.3+7C>T rs759947869 0.00001
NM_033022.4(RPS24):c.324G>A (p.Lys108=) rs746433565 0.00001
NM_033022.4(RPS24):c.333G>A (p.Lys111=) rs144291219 0.00001
NM_033022.4(RPS24):c.390+14A>G rs1158604804 0.00001
NM_033022.4(RPS24):c.99G>A (p.Ala33=) rs772511022 0.00001
NC_000010.10:g.(?_79799952)_(79799964_?)dup
NM_000969.5(RPL5):c.-38C>T rs372080902
NM_000969.5(RPL5):c.138A>C (p.Thr46=)
NM_000969.5(RPL5):c.189+20G>A
NM_000969.5(RPL5):c.190-10C>T
NM_000969.5(RPL5):c.190-18G>C
NM_000969.5(RPL5):c.190-18G>T
NM_000969.5(RPL5):c.190-6C>A
NM_000969.5(RPL5):c.198T>C (p.Tyr66=)
NM_000969.5(RPL5):c.234G>A (p.Ala78=)
NM_000969.5(RPL5):c.294A>G (p.Ala98=)
NM_000969.5(RPL5):c.3+11G>A rs376414614
NM_000969.5(RPL5):c.3+11G>C rs376414614
NM_000969.5(RPL5):c.3+18T>G
NM_000969.5(RPL5):c.3+19C>G
NM_000969.5(RPL5):c.310C>T (p.Leu104=) rs766476007
NM_000969.5(RPL5):c.324+8C>A
NM_000969.5(RPL5):c.325-16T>C rs1687116560
NM_000969.5(RPL5):c.325-17A>G rs2100684491
NM_000969.5(RPL5):c.393T>C (p.Asn131=)
NM_000969.5(RPL5):c.399A>G (p.Glu133=)
NM_000969.5(RPL5):c.4-17A>T
NM_000969.5(RPL5):c.4-7C>T
NM_000969.5(RPL5):c.4-7del rs1291987734
NM_000969.5(RPL5):c.4-9T>C
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu) rs11540836
NM_000969.5(RPL5):c.468C>T (p.Gly156=)
NM_000969.5(RPL5):c.51A>G (p.Gln17=)
NM_000969.5(RPL5):c.527+14_527+17dup
NM_000969.5(RPL5):c.527+20C>T
NM_000969.5(RPL5):c.527+7A>T
NM_000969.5(RPL5):c.527+7_527+19del rs2100685123
NM_000969.5(RPL5):c.528-17G>A
NM_000969.5(RPL5):c.528-20T>C
NM_000969.5(RPL5):c.549T>C (p.Tyr183=)
NM_000969.5(RPL5):c.576A>G (p.Ala192=)
NM_000969.5(RPL5):c.651T>C (p.Asp217=)
NM_000969.5(RPL5):c.6G>A (p.Gly2=)
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly) rs576330538
NM_000969.5(RPL5):c.705+14C>T rs2100688720
NM_000969.5(RPL5):c.706-10T>C
NM_000969.5(RPL5):c.706-13T>A
NM_000969.5(RPL5):c.73+10C>T
NM_000969.5(RPL5):c.73+9dup
NM_000969.5(RPL5):c.74-15_74-13del rs2100676802
NM_000969.5(RPL5):c.74-7C>T
NM_000969.5(RPL5):c.744A>G (p.Arg248=)
NM_000969.5(RPL5):c.78T>G (p.Gly26=)
NM_000969.5(RPL5):c.794+10_794+12del rs1557444104
NM_000969.5(RPL5):c.794+16_794+19del rs747509136
NM_000969.5(RPL5):c.794+19dup rs747509136
NM_000969.5(RPL5):c.795-14C>A
NM_000969.5(RPL5):c.795-14C>G
NM_000975.5(RPL11):c.118T>C (p.Leu40=)
NM_000975.5(RPL11):c.123G>A (p.Glu41=)
NM_000975.5(RPL11):c.157+7dup
NM_000975.5(RPL11):c.157+9T>G
NM_000975.5(RPL11):c.158-7C>G rs768654673
NM_000975.5(RPL11):c.180T>C (p.Phe60=)
NM_000975.5(RPL11):c.189G>A (p.Arg63=) rs764531667
NM_000975.5(RPL11):c.219A>G (p.Thr73=)
NM_000975.5(RPL11):c.222T>G (p.Val74=)
NM_000975.5(RPL11):c.264+13C>T
NM_000975.5(RPL11):c.264+15C>A rs765761574
NM_000975.5(RPL11):c.264+16del
NM_000975.5(RPL11):c.265-6C>T
NM_000975.5(RPL11):c.285A>G (p.Arg95=)
NM_000975.5(RPL11):c.343C>T (p.Leu115=) rs770189198
NM_000975.5(RPL11):c.375C>T (p.Ile125=) rs2124431138
NM_000975.5(RPL11):c.426A>G (p.Ala142=)
NM_000975.5(RPL11):c.438C>A (p.Arg146=)
NM_000975.5(RPL11):c.498C>T (p.Phe166=)
NM_000975.5(RPL11):c.504G>A (p.Gln168=)
NM_000975.5(RPL11):c.507+16C>T
NM_000975.5(RPL11):c.508-12C>G
NM_000975.5(RPL11):c.508-20_508-17del
NM_000975.5(RPL11):c.508-7C>T
NM_000975.5(RPL11):c.6+10T>A
NM_000975.5(RPL11):c.6+12G>C
NM_000975.5(RPL11):c.6+14A>G rs376826360
NM_000975.5(RPL11):c.6+15C>T rs753341830
NM_000975.5(RPL11):c.6+16C>G
NM_000975.5(RPL11):c.6+18_6+19delinsAT rs2124428020
NM_000975.5(RPL11):c.6+19G>C
NM_000975.5(RPL11):c.6+20A>T
NM_000975.5(RPL11):c.6+8G>T
NM_000975.5(RPL11):c.60C>G (p.Leu20=) rs2124429060
NM_000975.5(RPL11):c.7-10C>T rs773406981
NM_000975.5(RPL11):c.7-19C>T
NM_000975.5(RPL11):c.7-6T>G
NM_000975.5(RPL11):c.7-7G>C
NM_000975.5(RPL11):c.7-9C>T rs558662093
NM_000975.5(RPL11):c.75T>C (p.Cys25=)
NM_000975.5(RPL11):c.87T>C (p.Ser29=)
NM_000975.5(RPL11):c.94A>C (p.Arg32=)
NM_000981.4(RPL19):c.126G>C (p.Arg42=)
NM_000981.4(RPL19):c.210C>T (p.Arg70=)
NM_000981.4(RPL19):c.456G>A (p.Lys152=)
NM_000981.4(RPL19):c.534G>A (p.Gln178=) rs72823350
NM_000981.4(RPL19):c.537C>G (p.Ala179=)
NM_000981.4(RPL19):c.564A>G (p.Leu188=) rs758902267
NM_000981.4(RPL19):c.585G>A (p.Lys195=) rs751845105
NM_000987.5(RPL26):c.105C>G (p.Ser35=)
NM_000987.5(RPL26):c.15C>G (p.Pro5=)
NM_000987.5(RPL26):c.15C>T (p.Pro5=)
NM_000987.5(RPL26):c.168+11C>G
NM_000987.5(RPL26):c.168+15T>G
NM_000987.5(RPL26):c.168+18T>G
NM_000987.5(RPL26):c.169-19C>T
NM_000987.5(RPL26):c.180A>G (p.Gly60=)
NM_000987.5(RPL26):c.234T>C (p.Tyr78=)
NM_000987.5(RPL26):c.243C>T (p.Tyr81=)
NM_000987.5(RPL26):c.276C>A (p.Gly92=)
NM_000987.5(RPL26):c.300C>T (p.His100=)
NM_000987.5(RPL26):c.309+13G>T
NM_000987.5(RPL26):c.309+18T>C
NM_000987.5(RPL26):c.309+7G>T
NM_000987.5(RPL26):c.357C>G (p.Leu119=)
NM_000987.5(RPL26):c.369C>T (p.Ala123=)
NM_000987.5(RPL26):c.384A>T (p.Val128=) rs201307266
NM_000987.5(RPL26):c.408G>A (p.Lys136=)
NM_000987.5(RPL26):c.426G>A (p.Lys142=)
NM_000987.5(RPL26):c.45C>T (p.Arg15=)
NM_000987.5(RPL26):c.72C>T (p.His24=)
NM_000996.4(RPL35A):c.*21T>A rs199693579
NM_000996.4(RPL35A):c.105C>T (p.Ala35=)
NM_000996.4(RPL35A):c.12-18G>T
NM_000996.4(RPL35A):c.12-4T>G
NM_000996.4(RPL35A):c.12-5C>T
NM_000996.4(RPL35A):c.12-7G>T rs2109804559
NM_000996.4(RPL35A):c.147T>C (p.Tyr49=)
NM_000996.4(RPL35A):c.164+13C>T rs2109805109
NM_000996.4(RPL35A):c.164+15C>G rs890177445
NM_000996.4(RPL35A):c.164+15C>T
NM_000996.4(RPL35A):c.165-15C>G
NM_000996.4(RPL35A):c.165-20C>T
NM_000996.4(RPL35A):c.183C>T (p.Gly61=) rs370212853
NM_000996.4(RPL35A):c.186C>T (p.Gly62=)
NM_000996.4(RPL35A):c.204A>G (p.Arg68=)
NM_000996.4(RPL35A):c.258C>A (p.Ala86=)
NM_000996.4(RPL35A):c.282T>C (p.Ala94=) rs201018840
NM_000996.4(RPL35A):c.282T>G (p.Ala94=)
NM_000996.4(RPL35A):c.306A>C (p.Arg102=)
NM_000996.4(RPL35A):c.309+7A>G
NM_000996.4(RPL35A):c.310-20G>A rs200360699
NM_000996.4(RPL35A):c.310-20G>C rs200360699
NM_000996.4(RPL35A):c.310-6del rs2109818917
NM_000996.4(RPL35A):c.321C>T (p.Pro107=)
NM_000996.4(RPL35A):c.324A>G (p.Ser108=) rs751160471
NM_000996.4(RPL35A):c.332A>G (p.Ter111=)
NM_000996.4(RPL35A):c.33T>C (p.Phe11=) rs751752645
NM_000996.4(RPL35A):c.75A>G (p.Thr25=) rs1244935223
NM_000996.4(RPL35A):c.90T>C (p.Ile30=) rs2109804838
NM_001011.4(RPS7):c.-109C>T rs142444366
NM_001011.4(RPS7):c.-19+13C>T rs530845583
NM_001011.4(RPS7):c.105C>T (p.Asp35=)
NM_001011.4(RPS7):c.120C>A (p.Leu40=)
NM_001011.4(RPS7):c.129G>A (p.Leu43=)
NM_001011.4(RPS7):c.147+14C>A
NM_001011.4(RPS7):c.147+15C>T
NM_001011.4(RPS7):c.147+16C>T rs912491105
NM_001011.4(RPS7):c.147+7T>C
NM_001011.4(RPS7):c.147+8G>A rs2147819351
NM_001011.4(RPS7):c.148-19T>A
NM_001011.4(RPS7):c.148-20A>C
NM_001011.4(RPS7):c.148-20A>G
NM_001011.4(RPS7):c.177T>C (p.Ala59=)
NM_001011.4(RPS7):c.216C>T (p.Phe72=) rs781328965
NM_001011.4(RPS7):c.234G>T (p.Arg78=)
NM_001011.4(RPS7):c.24C>A (p.Ile8=)
NM_001011.4(RPS7):c.24C>T (p.Ile8=)
NM_001011.4(RPS7):c.261C>T (p.Phe87=)
NM_001011.4(RPS7):c.273T>C (p.His91=) rs1442216854
NM_001011.4(RPS7):c.276C>T (p.Val92=) rs61730448
NM_001011.4(RPS7):c.291+19C>T
NM_001011.4(RPS7):c.292-7C>G
NM_001011.4(RPS7):c.292-8C>A
NM_001011.4(RPS7):c.292-8C>T rs373405472
NM_001011.4(RPS7):c.292-9A>T rs746941533
NM_001011.4(RPS7):c.336T>C (p.Asn112=)
NM_001011.4(RPS7):c.357-20C>A
NM_001011.4(RPS7):c.366G>A (p.Leu122=) rs2147822425
NM_001011.4(RPS7):c.396C>T (p.Asp132=)
NM_001011.4(RPS7):c.405C>T (p.Phe135=)
NM_001011.4(RPS7):c.411C>T (p.Ser137=)
NM_001011.4(RPS7):c.444A>G (p.Leu148=)
NM_001011.4(RPS7):c.447T>C (p.Asp149=) rs2147822460
NM_001011.4(RPS7):c.450C>G (p.Gly150=)
NM_001011.4(RPS7):c.471T>C (p.His157=)
NM_001011.4(RPS7):c.486G>A (p.Gln162=)
NM_001011.4(RPS7):c.508-10T>C
NM_001011.4(RPS7):c.508-12C>G rs2071639
NM_001011.4(RPS7):c.519T>C (p.Phe173=) rs1572360947
NM_001011.4(RPS7):c.72C>T (p.Ser24=)
NM_001011.4(RPS7):c.75+8G>T
NM_001011.4(RPS7):c.76-12G>A
NM_001011.4(RPS7):c.76-12G>C rs2147819267
NM_001011.4(RPS7):c.76-13C>G
NM_001011.4(RPS7):c.76-13C>T
NM_001011.4(RPS7):c.76-16G>A rs767920442
NM_001011.4(RPS7):c.76-8C>G
NM_001011.4(RPS7):c.79C>A (p.Leu27Ile)
NM_001011.4(RPS7):c.81T>A (p.Leu27=)
NM_001011.4(RPS7):c.82C>T (p.Leu28=)
NM_001014.5(RPS10):c.105G>A (p.Leu35=)
NM_001014.5(RPS10):c.150+17G>A
NM_001014.5(RPS10):c.150+9del rs372641476
NM_001014.5(RPS10):c.151-20A>G
NM_001014.5(RPS10):c.151-4A>G
NM_001014.5(RPS10):c.165A>C (p.Arg55=)
NM_001014.5(RPS10):c.201C>T (p.Phe67=) rs2113805419
NM_001014.5(RPS10):c.270G>A (p.Val90=)
NM_001014.5(RPS10):c.285C>T (p.Arg95=)
NM_001014.5(RPS10):c.288T>G (p.Arg96=)
NM_001014.5(RPS10):c.291C>T (p.Ser97=)
NM_001014.5(RPS10):c.297A>G (p.Pro99=) rs2113805269
NM_001014.5(RPS10):c.30C>A (p.Ala10=)
NM_001014.5(RPS10):c.322+13C>T
NM_001014.5(RPS10):c.322+15C>T
NM_001014.5(RPS10):c.322+17A>G
NM_001014.5(RPS10):c.323-18G>A
NM_001014.5(RPS10):c.323-19T>C rs1765779305
NM_001014.5(RPS10):c.345G>A (p.Ala115=)
NM_001014.5(RPS10):c.354A>C (p.Thr118=)
NM_001014.5(RPS10):c.357A>G (p.Arg119=)
NM_001014.5(RPS10):c.400+13A>G
NM_001014.5(RPS10):c.400+19dup
NM_001014.5(RPS10):c.400+20A>G
NM_001014.5(RPS10):c.401-10dup
NM_001014.5(RPS10):c.401-11dup
NM_001014.5(RPS10):c.401-16A>T
NM_001014.5(RPS10):c.408C>A (p.Ala136=) rs147566753
NM_001014.5(RPS10):c.420C>T (p.Ala140=)
NM_001014.5(RPS10):c.457-6T>C rs2113793989
NM_001014.5(RPS10):c.462C>T (p.Gly154=)
NM_001014.5(RPS10):c.471T>A (p.Gly157=)
NM_001021.6(RPS17):c.126C>T (p.Pro42=)
NM_001021.6(RPS17):c.390G>A (p.Thr130=)
NM_001021.6(RPS17):c.45C>T (p.Val15=)
NM_001022.4(RPS19):c.108C>T (p.Thr36=)
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.141C>T (p.Pro47=)
NM_001022.4(RPS19):c.159C>T (p.Phe53=)
NM_001022.4(RPS19):c.15T>A (p.Thr5=) rs2123256038
NM_001022.4(RPS19):c.165G>A (p.Thr55=)
NM_001022.4(RPS19):c.172+17T>C
NM_001022.4(RPS19):c.173-16C>T
NM_001022.4(RPS19):c.173-20C>G
NM_001022.4(RPS19):c.173-20C>T
NM_001022.4(RPS19):c.173-6C>T
NM_001022.4(RPS19):c.173-8_173-7delinsTT rs2123283596
NM_001022.4(RPS19):c.183G>C (p.Ala61=)
NM_001022.4(RPS19):c.207C>T (p.Gly69=)
NM_001022.4(RPS19):c.213G>T (p.Gly71=)
NM_001022.4(RPS19):c.279C>T (p.Ser93=)
NM_001022.4(RPS19):c.288C>G (p.Ser96=)
NM_001022.4(RPS19):c.303C>T (p.Arg101=)
NM_001022.4(RPS19):c.330G>A (p.Leu110=) rs2123284228
NM_001022.4(RPS19):c.342A>G (p.Glu114=)
NM_001022.4(RPS19):c.356+12A>G
NM_001022.4(RPS19):c.356+13G>T
NM_001022.4(RPS19):c.356+15G>A
NM_001022.4(RPS19):c.356+18G>T rs61762294
NM_001022.4(RPS19):c.356+19G>A
NM_001022.4(RPS19):c.357-10C>T
NM_001022.4(RPS19):c.402C>T (p.Ile134=)
NM_001022.4(RPS19):c.411+11C>T
NM_001022.4(RPS19):c.411+19G>A
NM_001022.4(RPS19):c.411+20T>G
NM_001022.4(RPS19):c.52C>T (p.Leu18=)
NM_001022.4(RPS19):c.57A>G (p.Ala19=) rs2123256237
NM_001022.4(RPS19):c.71+18G>A
NM_001022.4(RPS19):c.72-10T>G rs1176399879
NM_001022.4(RPS19):c.72-15C>T
NM_001022.4(RPS19):c.75C>T (p.Ser25=) rs370343297
NM_001022.4(RPS19):c.90C>G (p.Val30=)
NM_001029.5(RPS26):c.-27C>T rs200831849
NM_001029.5(RPS26):c.-31C>T rs17118262
NM_001029.5(RPS26):c.-9G>T rs372708429
NM_001029.5(RPS26):c.120C>A (p.Val40=)
NM_001029.5(RPS26):c.120C>G (p.Val40=)
NM_001029.5(RPS26):c.129C>T (p.Asn43=)
NM_001029.5(RPS26):c.144A>G (p.Ala48=) rs150715896
NM_001029.5(RPS26):c.144A>T (p.Ala48=)
NM_001029.5(RPS26):c.181+19C>G rs201040758
NM_001029.5(RPS26):c.181+8G>C
NM_001029.5(RPS26):c.182-16_182-15del
NM_001029.5(RPS26):c.182-20C>T
NM_001029.5(RPS26):c.182-9A>G
NM_001029.5(RPS26):c.183C>G (p.Ala61=)
NM_001029.5(RPS26):c.201G>A (p.Leu67=) rs1371451613
NM_001029.5(RPS26):c.213A>G (p.Leu71=)
NM_001029.5(RPS26):c.288A>G (p.Thr96=)
NM_001029.5(RPS26):c.3+10C>T
NM_001029.5(RPS26):c.3+12T>C
NM_001029.5(RPS26):c.3+13G>T rs199917474
NM_001029.5(RPS26):c.3+14C>A
NM_001029.5(RPS26):c.3+14C>G rs763770729
NM_001029.5(RPS26):c.3+7C>G rs115750993
NM_001029.5(RPS26):c.3+7C>T rs115750993
NM_001029.5(RPS26):c.3+9T>A rs545595719
NM_001029.5(RPS26):c.312+7A>G
NM_001029.5(RPS26):c.313-10dup
NM_001029.5(RPS26):c.313-17_313-14del rs771654280
NM_001029.5(RPS26):c.313-7C>T
NM_001029.5(RPS26):c.327T>C (p.Arg109=) rs56696262
NM_001029.5(RPS26):c.333A>T (p.Pro111=) rs1179423823
NM_001029.5(RPS26):c.336A>G (p.Pro112=)
NM_001029.5(RPS26):c.4-10C>T
NM_001029.5(RPS26):c.4-13C>T rs962158538
NM_001029.5(RPS26):c.4-4G>T rs2136753773
NM_001029.5(RPS26):c.4-7G>C rs1288899882
NM_001029.5(RPS26):c.93C>G (p.Pro31=)
NM_001032.5(RPS29):c.163-4del rs373877728
NM_001142285.2(RPS24):c.484C>T (p.Arg162Trp)
NM_001142285.2(RPS24):c.828C>A (p.Ser276Arg) rs1160029790
NM_002049.4(GATA1):c.1017G>C (p.Gly339=)
NM_002049.4(GATA1):c.1023C>T (p.Ser341=)
NM_002049.4(GATA1):c.1056C>T (p.Gly352=)
NM_002049.4(GATA1):c.1059G>C (p.Leu353=) rs2147307659
NM_002049.4(GATA1):c.1068C>A (p.Gly356=)
NM_002049.4(GATA1):c.1086T>C (p.His362=)
NM_002049.4(GATA1):c.1146C>T (p.Phe382=)
NM_002049.4(GATA1):c.1152A>C (p.Gly384=)
NM_002049.4(GATA1):c.1159C>T (p.Leu387=)
NM_002049.4(GATA1):c.1179C>T (p.Ser393=) rs781868016
NM_002049.4(GATA1):c.1185C>G (p.Pro395=)
NM_002049.4(GATA1):c.1188A>C (p.Thr396=) rs2147307813
NM_002049.4(GATA1):c.1215T>A (p.Thr405=)
NM_002049.4(GATA1):c.147C>A (p.Ala49=) rs2147305674
NM_002049.4(GATA1):c.156A>C (p.Thr52=)
NM_002049.4(GATA1):c.207C>T (p.Tyr69=) rs1602219215
NM_002049.4(GATA1):c.210A>G (p.Arg70=)
NM_002049.4(GATA1):c.220+13A>C rs2147305801
NM_002049.4(GATA1):c.234C>T (p.Tyr78=)
NM_002049.4(GATA1):c.242T>C (p.Leu81Pro) rs1557020166
NM_002049.4(GATA1):c.258G>T (p.Gly86=)
NM_002049.4(GATA1):c.276A>G (p.Pro92=)
NM_002049.4(GATA1):c.279T>C (p.Tyr93=)
NM_002049.4(GATA1):c.291C>A (p.Ala97=)
NM_002049.4(GATA1):c.294C>T (p.Tyr98=)
NM_002049.4(GATA1):c.327G>A (p.Val109=)
NM_002049.4(GATA1):c.338G>T (p.Arg113Leu) rs782208453
NM_002049.4(GATA1):c.345C>T (p.Asp115=)
NM_002049.4(GATA1):c.364G>A (p.Glu122Lys)
NM_002049.4(GATA1):c.372G>A (p.Leu124=)
NM_002049.4(GATA1):c.39G>A (p.Glu13=) rs2147305570
NM_002049.4(GATA1):c.48C>A (p.Pro16=)
NM_002049.4(GATA1):c.507C>T (p.Ser169=)
NM_002049.4(GATA1):c.528C>T (p.Thr176=)
NM_002049.4(GATA1):c.561T>C (p.Ser187=) rs2147306665
NM_002049.4(GATA1):c.579T>C (p.Thr193=)
NM_002049.4(GATA1):c.598+14A>T
NM_002049.4(GATA1):c.684C>T (p.Cys228=)
NM_002049.4(GATA1):c.711G>A (p.Gln237=) rs1204529779
NM_002049.4(GATA1):c.729G>A (p.Arg243=)
NM_002049.4(GATA1):c.831C>T (p.Pro277=)
NM_002049.4(GATA1):c.855C>T (p.Tyr285=)
NM_002049.4(GATA1):c.871-11C>T
NM_002049.4(GATA1):c.879G>A (p.Arg293=)
NM_002049.4(GATA1):c.882A>G (p.Pro294=)
NM_002049.4(GATA1):c.892C>A (p.Arg298=)
NM_002049.4(GATA1):c.93G>A (p.Gly31=)
NM_002049.4(GATA1):c.969C>G (p.Gly323=)
NM_033022.4(RPS24):c.-37C>T rs375555593
NM_033022.4(RPS24):c.156G>A (p.Pro52=)
NM_033022.4(RPS24):c.156G>T (p.Pro52=) rs150157180
NM_033022.4(RPS24):c.165C>T (p.Ile55=) rs1589326814
NM_033022.4(RPS24):c.171A>T (p.Val57=)
NM_033022.4(RPS24):c.21C>A (p.Ile7=)
NM_033022.4(RPS24):c.246A>C (p.Ala82=) rs1240034111
NM_033022.4(RPS24):c.255T>C (p.Asn85=)
NM_033022.4(RPS24):c.277A>C (p.Arg93=)
NM_033022.4(RPS24):c.279+14_279+18del
NM_033022.4(RPS24):c.279+17T>A
NM_033022.4(RPS24):c.279+20_279+27del rs763970487
NM_033022.4(RPS24):c.280-11_280-10del rs756756010
NM_033022.4(RPS24):c.280-14C>G
NM_033022.4(RPS24):c.280-19G>T
NM_033022.4(RPS24):c.280-6A>C
NM_033022.4(RPS24):c.280-6A>G
NM_033022.4(RPS24):c.297G>A (p.Lys99=) rs1020277168
NM_033022.4(RPS24):c.3+14G>C
NM_033022.4(RPS24):c.3+15G>A rs764832484
NM_033022.4(RPS24):c.3+16C>T
NM_033022.4(RPS24):c.3+17C>T rs751476775
NM_033022.4(RPS24):c.3+20T>A
NM_033022.4(RPS24):c.3+7C>G
NM_033022.4(RPS24):c.3+9C>T rs775865079
NM_033022.4(RPS24):c.366G>A (p.Lys122=)
NM_033022.4(RPS24):c.372T>C (p.Asn124=)
NM_033022.4(RPS24):c.384C>G (p.Gly128=)
NM_033022.4(RPS24):c.390+13A>C
NM_033022.4(RPS24):c.390+9C>T
NM_033022.4(RPS24):c.391-11C>T
NM_033022.4(RPS24):c.391-4dup
NM_033022.4(RPS24):c.391-6A>G
NM_033022.4(RPS24):c.4-11T>C
NM_033022.4(RPS24):c.4-16G>C
NM_033022.4(RPS24):c.4-20C>G rs2131975997
NM_033022.4(RPS24):c.69+11G>A
NM_033022.4(RPS24):c.69+17C>T
NM_033022.4(RPS24):c.70-10C>T rs1345822997
NM_033022.4(RPS24):c.70-14A>G
NM_033022.4(RPS24):c.70-15G>T
NM_033022.4(RPS24):c.81C>A (p.Val27=)

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