ClinVar Miner

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

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NC_000001.10:g.(?_23395012)_(24673151_?)del
NC_000001.10:g.(?_24021140)_(24022863_?)del
NC_000001.10:g.(?_93297672)_(93307422_?)del
NC_000001.11:g.(?_23691814)_(23696383_?)del
NC_000001.11:g.(?_23691824)_(23696373_?)del
NC_000001.11:g.(?_23695788)_(23696383_?)del
NC_000001.11:g.(?_92832109)_(92833666_?)del
NC_000010.11:g.(?_78033902)_(78033914_?)del
NC_000017.10:g.(?_8136214)_(8285628_?)del
NC_000017.11:g.(?_7669603)_(8382316_?)del
NC_000019.9:g.(?_42363988)_(42364925_?)del
NC_000019.9:g.(?_42363988)_(42375445_?)del
NC_000019.9:g.(?_42373081)_(42373843_?)del
NC_000019.9:g.(?_42373091)_(42375455_?)del
NM_000969.5(RPL5):c.115_121del (p.Gln39fs)
NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter) rs1060503527
NM_000969.5(RPL5):c.153del (p.Met51fs) rs2100677043
NM_000969.5(RPL5):c.157_169dup (p.Asn57fs) rs1571024385
NM_000969.5(RPL5):c.15dup (p.Val6fs) rs1686990676
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_000969.5(RPL5):c.173del (p.Arg58fs)
NM_000969.5(RPL5):c.175_176del (p.Asp59fs) rs1571024430
NM_000969.5(RPL5):c.187C>T (p.Gln63Ter) rs1558284062
NM_000969.5(RPL5):c.1A>C (p.Met1Leu) rs2100672432
NM_000969.5(RPL5):c.215_218del (p.Asp72fs)
NM_000969.5(RPL5):c.256dup (p.Tyr86fs) rs1553121909
NM_000969.5(RPL5):c.272del (p.Gly91fs)
NM_000969.5(RPL5):c.2T>G (p.Met1Arg)
NM_000969.5(RPL5):c.4-7_4-4del rs1558283792
NM_000969.5(RPL5):c.479_480del (p.Phe160fs)
NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter) rs148673599
NM_000969.5(RPL5):c.500dup (p.Asp168fs) rs2100685034
NM_000969.5(RPL5):c.608dup (p.Asn203fs) rs2100688383
NM_000969.5(RPL5):c.634dup (p.Met212fs) rs1687178005
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) rs121434405
NM_000969.5(RPL5):c.70C>T (p.Arg24Ter) rs1558283853
NM_000969.5(RPL5):c.71del (p.Arg24fs)
NM_000969.5(RPL5):c.72A>G (p.Arg24=)
NM_000969.5(RPL5):c.9_12del (p.Phe3fs) rs1686990557
NM_000975.5(RPL11):c.100dup (p.Thr34fs)
NM_000975.5(RPL11):c.107del (p.Ala36fs) rs2124429127
NM_000975.5(RPL11):c.111del (p.Lys38fs) rs1553121684
NM_000975.5(RPL11):c.121G>T (p.Glu41Ter) rs2124429140
NM_000975.5(RPL11):c.151dup (p.Ser51fs) rs2124429183
NM_000975.5(RPL11):c.158-1G>A rs151155897
NM_000975.5(RPL11):c.160dup (p.Arg54fs) rs1644516691
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.301_302del (p.Asp101fs)
NM_000975.5(RPL11):c.311del (p.Asn104fs)
NM_000975.5(RPL11):c.508-2A>G rs1570569383
NM_000975.5(RPL11):c.60_61del (p.Cys21fs) rs1570566590
NM_000975.5(RPL11):c.62_63del (p.Cys21fs) rs1570566592
NM_000975.5(RPL11):c.96_109del (p.Arg32fs)
NM_001014.5(RPS10):c.1A>G (p.Met1Val) rs2113806114
NM_001014.5(RPS10):c.285_292del (p.Arg96fs) rs1581931439
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) rs267607022
NM_001022.4(RPS19):c.101del (p.Val34fs)
NM_001022.4(RPS19):c.13dup (p.Thr5fs) rs149420497
NM_001022.4(RPS19):c.166C>T (p.Arg56Ter)
NM_001022.4(RPS19):c.16del (p.Thr5_Val6insTer) rs2074020491
NM_001022.4(RPS19):c.173-1G>T rs2123283622
NM_001022.4(RPS19):c.173-2A>G rs111833764
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln) rs1555841301
NM_001022.4(RPS19):c.185G>C (p.Arg62Pro) rs1555841301
NM_001022.4(RPS19):c.1A>C (p.Met1Leu)
NM_001022.4(RPS19):c.257dup (p.Val87fs) rs2074118749
NM_001022.4(RPS19):c.296_297dup (p.Ala100fs) rs1555841356
NM_001022.4(RPS19):c.347del (p.Asp116fs)
NM_001022.4(RPS19):c.357-2A>G
NM_001022.4(RPS19):c.384_385del (p.Asp130fs) rs869066130
NM_001022.4(RPS19):c.385dup (p.Arg129fs)
NM_001022.4(RPS19):c.3G>A (p.Met1Ile) rs138938035
NM_001022.4(RPS19):c.3G>T (p.Met1Ile) rs138938035
NM_001022.4(RPS19):c.406G>T (p.Gly136Ter) rs144337183
NM_001022.4(RPS19):c.412-2A>G
NM_001022.4(RPS19):c.53T>C (p.Leu18Pro) rs2074021310
NM_001022.4(RPS19):c.58_61dup (p.Phe21fs) rs2123256254
NM_001022.4(RPS19):c.94G>T (p.Glu32Ter)
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) rs104894716
NM_001022.4(RPS19):c.99G>A (p.Trp33Ter) rs2074026880
NM_033022.4(RPS24):c.13_14del (p.Val5fs) rs1589326484
NM_033022.4(RPS24):c.1A>G (p.Met1Val) rs886039545
NM_033022.4(RPS24):c.292G>T (p.Glu98Ter)
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter) rs104894189

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