ClinVar Miner

List of variants reported as likely benign for anemia by Ambry Genetics

Included ClinVar conditions (288):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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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.629A>G (p.Tyr210Cys) rs11540832 0.00574
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_033022.4(RPS24):c.168T>C (p.Phe56=) rs57866839 0.00267
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_001014.5(RPS10):c.231G>A (p.Gln77=) rs147863199 0.00125
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
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_000969.5(RPL5):c.423C>T (p.Ala141=) rs138277390 0.00045
NM_000981.4(RPL19):c.369G>A (p.Leu123=) rs370663313 0.00040
NM_000975.5(RPL11):c.171C>G (p.Val57=) rs149087936 0.00035
NM_000981.4(RPL19):c.426C>T (p.Ile142=) rs557578994 0.00032
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) rs143477104 0.00029
NM_000975.5(RPL11):c.102G>A (p.Thr34=) rs199772693 0.00022
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_000987.5(RPL26):c.96C>T (p.Ser32=) rs755369380 0.00010
NM_001011.4(RPS7):c.102G>A (p.Ser34=) rs754617897 0.00010
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_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.300A>G (p.Ser100=) rs372622822 0.00006
NM_000996.4(RPL35A):c.21C>T (p.Ser7=) rs145660527 0.00006
NM_001022.4(RPS19):c.183G>A (p.Ala61=) rs782727047 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_001011.4(RPS7):c.285C>T (p.Ile95=) rs368931076 0.00004
NM_001022.4(RPS19):c.6T>G (p.Pro2=) rs782512026 0.00004
NM_001011.4(RPS7):c.63C>T (p.Ser21=) rs145376788 0.00003
NM_000969.5(RPL5):c.156A>C (p.Ile52=) rs753968704 0.00002
NM_000975.5(RPL11):c.33C>T (p.Pro11=) rs764637448 0.00002
NM_000969.5(RPL5):c.204T>A (p.Arg68=) rs1031900489 0.00001
NM_000981.4(RPL19):c.93A>G (p.Glu31=) rs377198587 0.00001
NM_000987.5(RPL26):c.255G>A (p.Val85=) rs758125897 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_001029.5(RPS26):c.315T>A (p.Gly105=) rs554297156 0.00001
NM_001029.5(RPS26):c.93C>T (p.Pro31=) rs760255764 0.00001
NM_000969.5(RPL5):c.310C>T (p.Leu104=) rs766476007
NM_000969.5(RPL5):c.51A>G (p.Gln17=)
NM_000969.5(RPL5):c.807C>A (p.Pro269=)
NM_000975.5(RPL11):c.180T>C (p.Phe60=)
NM_000975.5(RPL11):c.498C>T (p.Phe166=)
NM_000975.5(RPL11):c.504G>A (p.Gln168=)
NM_000975.5(RPL11):c.75T>C (p.Cys25=)
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.72C>T (p.His24=)
NM_000996.4(RPL35A):c.282T>C (p.Ala94=) rs201018840
NM_000996.4(RPL35A):c.306A>C (p.Arg102=)
NM_001011.4(RPS7):c.234G>T (p.Arg78=)
NM_001011.4(RPS7):c.411C>T (p.Ser137=)
NM_001011.4(RPS7):c.450C>G (p.Gly150=)
NM_001011.4(RPS7):c.69C>T (p.Ile23=)
NM_001014.5(RPS10):c.105G>A (p.Leu35=)
NM_001014.5(RPS10):c.270G>A (p.Val90=)
NM_001014.5(RPS10):c.288T>G (p.Arg96=)
NM_001014.5(RPS10):c.291C>T (p.Ser97=)
NM_001014.5(RPS10):c.354A>C (p.Thr118=)
NM_001014.5(RPS10):c.60C>G (p.Val20=)
NM_001021.6(RPS17):c.126C>T (p.Pro42=)
NM_001021.6(RPS17):c.390G>A (p.Thr130=)
NM_001021.6(RPS17):c.39C>T (p.Ala13=)
NM_001021.6(RPS17):c.45C>T (p.Val15=)
NM_001022.4(RPS19):c.159C>T (p.Phe53=)
NM_001022.4(RPS19):c.183G>C (p.Ala61=)
NM_001022.4(RPS19):c.207C>T (p.Gly69=)
NM_001029.5(RPS26):c.99C>T (p.Asp33=)

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