ClinVar Miner

List of variants reported as benign for Diamond-Blackfan anemia

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001022.4(RPS19):c.356+14= rs1366610 0.99999
NM_001014.5(RPS10):c.-1+218A>C rs4713778 0.99812
NM_000975.4(RPL11):c.-37C>G rs10917413 0.98344
NM_000969.5(RPL5):c.794+121G>A rs10874744 0.58918
NM_001014.4(RPS10):c.-58C>T rs78454682 0.09137
NM_001029.5(RPS26):c.327T>A (p.Arg109=) rs56696262 0.08189
NM_033022.4(RPS24):c.391-3C>A rs7899453 0.06807
NM_033022.3(RPS24):c.-109A>G rs3740254 0.03888
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880 0.02525
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806 0.02253
NM_001014.5(RPS10):c.401-18C>T rs41269040 0.02247
NM_033022.4(RPS24):c.177A>G (p.Gly59=) rs6496 0.00736
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832 0.00574
NM_000969.5(RPL5):c.258T>C (p.Tyr86=) rs113792800 0.00472
NM_000975.5(RPL11):c.158-18G>C rs115017937 0.00330
NM_001022.4(RPS19):c.411+12G>A rs61762296 0.00287
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_000969.5(RPL5):c.325-4A>G rs183825489 0.00267
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_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_001014.5(RPS10):c.231G>A (p.Gln77=) rs147863199 0.00125
NM_033022.4(RPS24):c.363A>G (p.Ala121=) rs139181869 0.00114
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_033022.4(RPS24):c.-8T>G rs185722293 0.00101
NM_000975.5(RPL11):c.30C>T (p.Asn10=) rs139286202 0.00076
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.168+17G>A rs368557278 0.00051
NM_000969.5(RPL5):c.423C>T (p.Ala141=) rs138277390 0.00045
NM_000969.5(RPL5):c.3+12C>T rs200130961 0.00040
NM_033022.4(RPS24):c.378T>G (p.Gly126=) rs151246531 0.00039
NM_000969.5(RPL5):c.324+14G>T rs200772479 0.00030
NM_001014.5(RPS10):c.444C>T (p.Thr148=) rs149897629 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.213C>T (p.His71=) rs562572818 0.00016
NM_033022.4(RPS24):c.235C>T (p.Leu79=) rs192994060 0.00016
NM_000975.5(RPL11):c.6+19G>T rs563555270 0.00013
NM_000987.5(RPL26):c.96C>T (p.Ser32=) rs755369380 0.00010
NM_000975.5(RPL11):c.6+9C>T rs758722817 0.00007
NM_001022.4(RPS19):c.173-19C>G rs782495262 0.00006
NM_000975.5(RPL11):c.51C>T (p.Ile17=) rs766157130 0.00005
NM_000987.5(RPL26):c.327A>G (p.Leu109=) rs755255765 0.00005
NM_001014.5(RPS10):c.401-9A>G rs760917852 0.00005
NM_001014.5(RPS10):c.204C>T (p.Tyr68=) rs368563040 0.00004
NM_001022.4(RPS19):c.72-17C>G rs150151184 0.00004
NM_001022.4(RPS19):c.411+6G>C rs138397598 0.00003
NM_000969.5(RPL5):c.795-9C>A rs748765097 0.00001
NM_000969.5(RPL5):c.846A>G (p.Gln282=) rs376641112 0.00001
NM_000969.5(RPL5):c.3+11G>A rs376414614
NM_000969.5(RPL5):c.74-8dup
NM_000969.5(RPL5):c.794+16_794+19del rs747509136
NM_000969.5(RPL5):c.794+17_794+19del rs747509136
NM_000969.5(RPL5):c.794+19dup rs747509136
NM_000975.5(RPL11):c.102G>C (p.Thr34=) rs199772693
NM_000975.5(RPL11):c.265-9dup
NM_000975.5(RPL11):c.396+20del
NM_000975.5(RPL11):c.6+18G>A
NM_000981.4(RPL19):c.190C>A (p.Arg64=) rs2228666
NM_000987.5(RPL26):c.169-16T>C
NM_000987.5(RPL26):c.310-16dup
NM_001022.3(RPS19):c.-146_-145insGCCA rs34020014
NM_001022.4(RPS19):c.-1+26G>T rs74449035
NM_001022.4(RPS19):c.356+14delinsGG
NM_001022.4(RPS19):c.356+169CT[2] rs369353222
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_001022.4(RPS19):c.71+12del rs886054470

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