ClinVar Miner

List of variants reported as pathogenic for Diamond-Blackfan anemia by OMIM

Included ClinVar conditions (22):
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ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406 0.00008
NC_000012.10:g.54711095_54731551del
NG_009890.2:g.(5565_6559)_(8796_9460)del
NG_033850.2(RPL15):g.7123_9515del
NM_000969.5(RPL5):c.175_176del (p.Asp59fs) rs1571024430
NM_000969.5(RPL5):c.235dup (p.Tyr79fs) rs1571026775
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) rs587777117
NM_000969.5(RPL5):c.664C>T (p.Gln222Ter) rs587777118
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) rs121434405
NM_000969.5(RPL5):c.73+2T>G rs142156224
NM_000975.5(RPL11):c.158-1G>A rs151155897
NM_000975.5(RPL11):c.204del (p.Ile68fs) rs587777120
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.476_477del (p.Lys159fs) rs587777119
NM_000975.5(RPL11):c.479AGG[1] (p.Glu161del) rs1570569083
NM_000975.5(RPL11):c.60_61del (p.Cys21fs) rs1570566590
NM_000979.4(RPL18):c.152T>C (p.Leu51Ser) rs1568425218
NM_000987.5(RPL26):c.120_121del (p.Lys41fs) rs397518451
NM_000988.5(RPL27):c.-2-1G>A rs1085307119
NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter) rs116840809
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del) rs116840807
NM_000996.4(RPL35A):c.97G>A (p.Val33Ile) rs116840808
NM_001011.4(RPS7):c.147+1G>A rs397507554
NM_001011.4(RPS7):c.76-1G>T rs1057519624
NM_001014.5(RPS10):c.260dup (p.Glu88fs) rs1581931541
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) rs267607022
NM_001014.5(RPS10):c.3G>A (p.Met1Ile) rs267607021
NM_001019.5(RPS15A):c.213G>A (p.Lys71=) rs1567287990
NM_001021.6(RPS17):c.159T>G (p.Tyr53Ter) rs6991
NM_001021.6(RPS17):c.201_202del (p.Gly68fs) rs116840812
NM_001021.6(RPS17):c.2T>G (p.Met1Arg) rs116840811
NM_001022.3(RPS19):c.1-231_173-3418del
NM_001022.3(RPS19):c.[43G>T;164C>T]
NM_001022.4(RPS19):c.184C>T (p.Arg62Trp) rs104894711
NM_001022.4(RPS19):c.250A>T (p.Arg84Ter) rs121908649
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) rs61762293
NM_001022.4(RPS19):c.307del (p.Val103fs) rs786200935
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu) rs786200936
NM_001022.4(RPS19):c.98G>A (p.Trp33Ter) rs104894716
NM_001022.4(RPS19):c.[134_135inv;138_139dup]
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.1A>T (p.Met1Leu) rs143951267
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.3+1G>A rs148622862
NM_001029.5(RPS26):c.31dup (p.Ala11fs) rs786200892
NM_001029.5(RPS26):c.4-2A>T rs786203998
NM_001029.5(RPS26):c.97G>A (p.Asp33Asn) rs267607023
NM_001030.6(RPS27):c.90del (p.Tyr31fs) rs1085307115
NM_001031.5(RPS28):c.1A>G (p.Met1Val) rs786203997
NM_001032.5(RPS29):c.149T>C (p.Ile50Thr) rs587777569
NM_001032.5(RPS29):c.91A>T (p.Ile31Phe) rs587777568
NM_002948.5(RPL15):c.242dup (p.Tyr81Ter)
NM_002948.5(RPL15):c.29T>C (p.Leu10Pro)
NM_002948.5(RPL15):c.458A>C (p.Lys153Thr)
NM_002948.5(RPL15):c.85C>T (p.Gln29Ter)
NM_007055.3(POLR3A):c.-6128_-995del
NM_007209.4(RPL35):c.231G>C (p.Lys77Asn) rs1564307664
NM_033022.4(RPS24):c.316C>T (p.Gln106Ter) rs104894188
NM_033022.4(RPS24):c.46C>T (p.Arg16Ter) rs104894189
NM_033022.4(RPS24):c.4_6delinsTACGGATAG (p.Asn2delinsTyrGlyTer) rs116840806
NM_058163.3(TSR2):c.191A>G (p.Glu64Gly) rs786203996
NM_182922.4(HEATR3):c.1337G>A (p.Cys446Tyr) rs2150610519
NM_182922.4(HEATR3):c.1751G>A (p.Gly584Glu) rs917466219
NM_182922.4(HEATR3):c.399+1G>T rs2150594383
NM_182922.4(HEATR3):c.400T>C (p.Cys134Arg) rs1184398890
NM_182922.4(HEATR3):c.719C>T (p.Pro240Leu) rs2150600578
RPL5, 5-BP DEL/39-BP INS, NT498

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