ClinVar Miner

List of variants reported as likely benign for Diamond-Blackfan anemia 1 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 437
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001022.4(RPS19):c.72-92A>G rs566047445 0.00146
NM_033022.4(RPS24):c.371A>G (p.Asn124Ser) rs147128920 0.00081
NM_000987.5(RPL26):c.128A>G (p.Asn43Ser) rs149055327 0.00056
NM_000975.5(RPL11):c.171C>G (p.Val57=) rs149087936 0.00035
NM_000975.5(RPL11):c.102G>A (p.Thr34=) rs199772693 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_033022.4(RPS24):c.189T>C (p.His63=) rs201805132 0.00015
NM_001014.5(RPS10):c.351C>T (p.Leu117=) rs376353902 0.00013
NM_001022.4(RPS19):c.387A>G (p.Arg129=) rs782546942 0.00011
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_001014.5(RPS10):c.103C>T (p.Leu35=) rs143557454 0.00007
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592 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_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_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_001014.5(RPS10):c.111C>G (p.Asp37Glu) rs374314919 0.00005
NM_001022.4(RPS19):c.357-17C>T rs782356785 0.00005
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_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_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_001022.4(RPS19):c.255C>T (p.Asn85=) rs781860325 0.00003
NM_001022.4(RPS19):c.372A>T (p.Thr124=) rs782722836 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_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.87A>G (p.Lys29=) rs11540256 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.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_000987.5(RPL26):c.24T>C (p.Thr8=) rs750540417 0.00001
NM_000987.5(RPL26):c.255G>A (p.Val85=) rs758125897 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.126C>T (p.His42=) rs371560118 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.276C>T (p.Phe92=) rs374703100 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_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.343G>T (p.Asp115Tyr) rs914292956 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.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.225C>G (p.Val75=) rs2100680579
NM_000969.5(RPL5):c.231A>C (p.Ala77=) rs1260303346
NM_000969.5(RPL5):c.234G>A (p.Ala78=)
NM_000969.5(RPL5):c.270T>C (p.Val90=)
NM_000969.5(RPL5):c.285T>C (p.Tyr95=)
NM_000969.5(RPL5):c.294A>G (p.Ala98=)
NM_000969.5(RPL5):c.3+11G>C rs376414614
NM_000969.5(RPL5):c.3+17G>A
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+15A>T
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.330C>T (p.Leu110=)
NM_000969.5(RPL5):c.393T>C (p.Asn131=)
NM_000969.5(RPL5):c.399A>G (p.Glu133=)
NM_000969.5(RPL5):c.4-15T>G
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.588G>C (p.Arg196=)
NM_000969.5(RPL5):c.651T>C (p.Asp217=)
NM_000969.5(RPL5):c.69A>G (p.Arg23=)
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+15T>C
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+7C>T
NM_000969.5(RPL5):c.795-14C>A
NM_000969.5(RPL5):c.795-14C>G
NM_000969.5(RPL5):c.795-4G>A
NM_000969.5(RPL5):c.807C>A (p.Pro269=)
NM_000975.5(RPL11):c.118T>C (p.Leu40=)
NM_000975.5(RPL11):c.123G>A (p.Glu41=)
NM_000975.5(RPL11):c.157+12C>A
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.168T>C (p.Thr56=)
NM_000975.5(RPL11):c.174A>G (p.Arg58=)
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+11_264+12insA
NM_000975.5(RPL11):c.264+12C>G
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.268C>A (p.Arg90=)
NM_000975.5(RPL11):c.285A>G (p.Arg95=)
NM_000975.5(RPL11):c.343C>T (p.Leu115=) rs770189198
NM_000975.5(RPL11):c.345G>A (p.Leu115=)
NM_000975.5(RPL11):c.360C>T (p.Asp120=)
NM_000975.5(RPL11):c.375C>T (p.Ile125=) rs2124431138
NM_000975.5(RPL11):c.393T>C (p.Tyr131=)
NM_000975.5(RPL11):c.426A>G (p.Ala142=)
NM_000975.5(RPL11):c.438C>A (p.Arg146=)
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.508-14C>T
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+11G>C
NM_000975.5(RPL11):c.6+12G>C
NM_000975.5(RPL11):c.6+13G>T
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_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.210A>G (p.Val70=)
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_001014.5(RPS10):c.150+17G>A
NM_001014.5(RPS10):c.150+9del rs372641476
NM_001014.5(RPS10):c.151-17A>G
NM_001014.5(RPS10):c.151-20A>G
NM_001014.5(RPS10):c.151-4A>G
NM_001014.5(RPS10):c.151-7C>T
NM_001014.5(RPS10):c.165A>C (p.Arg55=)
NM_001014.5(RPS10):c.201C>T (p.Phe67=) rs2113805419
NM_001014.5(RPS10):c.222G>A (p.Glu74=) rs1581931578
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.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.401-13T>A
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_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.15T>A (p.Thr5=) rs2123256038
NM_001022.4(RPS19):c.165G>A (p.Thr55=)
NM_001022.4(RPS19):c.172+14G>C
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.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+14A>C
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.357-9_357-5del
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.71+9G>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_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.1068C>G (p.Gly356=)
NM_002049.4(GATA1):c.1086T>C (p.His362=)
NM_002049.4(GATA1):c.1089C>A (p.Leu363=)
NM_002049.4(GATA1):c.1102G>A (p.Gly368Ser)
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.21G>A (p.Gly7=)
NM_002049.4(GATA1):c.220+13A>C rs2147305801
NM_002049.4(GATA1):c.220+16G>A
NM_002049.4(GATA1):c.231G>A (p.Val77=)
NM_002049.4(GATA1):c.234C>T (p.Tyr78=)
NM_002049.4(GATA1):c.255G>A (p.Glu85=)
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.303G>A (p.Thr101=)
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.402G>C (p.Glu134Asp)
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.531G>A (p.Gly177=)
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.840T>C (p.Asn280=)
NM_002049.4(GATA1):c.855C>T (p.Tyr285=)
NM_002049.4(GATA1):c.870+12C>A
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.912T>A (p.Thr304=)
NM_002049.4(GATA1):c.93G>A (p.Gly31=)
NM_002049.4(GATA1):c.969C>G (p.Gly323=)
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+18T>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.280-17A>C
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+12T>C
NM_033022.4(RPS24):c.3+14G>C
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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