ClinVar Miner

List of variants reported as pathogenic for Diamond-Blackfan anemia 1 by Ambry Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_000969.5(RPL5):c.175_176del (p.Asp59fs) rs1571024430
NM_000969.5(RPL5):c.178_179del (p.Ile60fs)
NM_000969.5(RPL5):c.222dup (p.Val75fs)
NM_000969.5(RPL5):c.22A>T (p.Lys8Ter)
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) rs587777117
NM_000969.5(RPL5):c.26del (p.Asn9fs)
NM_000969.5(RPL5):c.385G>T (p.Glu129Ter)
NM_000969.5(RPL5):c.3G>A (p.Met1Ile)
NM_000969.5(RPL5):c.412C>T (p.Gln138Ter)
NM_000969.5(RPL5):c.48C>A (p.Tyr16Ter)
NM_000969.5(RPL5):c.60del (p.Phe20fs)
NM_000969.5(RPL5):c.619_620insTGTACATCGGAAGCACATCATGGGCCAGAATGTTGCAGATT (p.Tyr207fs)
NM_000969.5(RPL5):c.67C>T (p.Arg23Ter) rs121434405
NM_000969.5(RPL5):c.742C>T (p.Arg248Ter)
NM_000969.5(RPL5):c.83del (p.Thr28fs)
NM_000969.5(RPL5):c.92dup (p.Tyr31Ter)
NM_000975.5(RPL11):c.102dup (p.Arg35fs)
NM_000975.5(RPL11):c.158-1G>C
NM_000975.5(RPL11):c.158-2A>C
NM_000975.5(RPL11):c.298_299del (p.Ser100fs)
NM_000975.5(RPL11):c.328C>T (p.Gln110Ter)
NM_000975.5(RPL11):c.33del (p.Met12fs)
NM_000975.5(RPL11):c.6+2T>C
NM_000975.5(RPL11):c.60_61del (p.Cys21fs) rs1570566590
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs) rs1560120302
NM_001011.4(RPS7):c.65_75+2delinsCTGG
NM_001014.5(RPS10):c.268_275del (p.Val90fs)
NM_001014.5(RPS10):c.337C>T (p.Arg113Ter) rs267607022
NM_001021.6(RPS17):c.1A>G (p.Met1Val)
NM_001021.6(RPS17):c.2T>G (p.Met1Arg) rs116840811
NM_001021.6(RPS17):c.60del (p.Tyr21fs)
NM_001022.4(RPS19):c.13dup (p.Thr5fs) rs149420497
NM_001022.4(RPS19):c.162C>G (p.Tyr54Ter)
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.191T>C (p.Leu64Pro)
NM_001022.4(RPS19):c.21del (p.Asp8fs)
NM_001022.4(RPS19):c.280C>T (p.Arg94Ter) rs61762293
NM_001022.4(RPS19):c.288dup (p.Lys97fs)
NM_001022.4(RPS19):c.34C>T (p.Gln12Ter)
NM_001022.4(RPS19):c.385dup (p.Arg129fs)
NM_001022.4(RPS19):c.3G>A (p.Met1Ile) rs138938035
NM_001022.4(RPS19):c.3G>C (p.Met1Ile)
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.416_423delinsGAAGCATTAG (p.Ala139fs)
NM_001022.4(RPS19):c.79A>T (p.Lys27Ter)
NM_001029.5(RPS26):c.19_25dup (p.Gly9fs)
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.2T>C (p.Met1Thr)
NM_001029.5(RPS26):c.73_76del (p.Asn25fs) rs2136753850
NM_001029.5(RPS26):c.88del (p.Val30fs)
NM_001029.5(RPS26):c.9_12del (p.Lys4fs) rs2136753785
NM_033022.4(RPS24):c.1A>G (p.Met1Val) rs886039545
NM_033022.4(RPS24):c.2T>C (p.Met1Thr)
NM_033022.4(RPS24):c.66_67del (p.Gln22fs)

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