ClinVar Miner

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

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NC_000001.10:g.(?_24018304)_(24022873_?)del
NC_000001.10:g.(?_24022278)_(24022873_?)del
NC_000001.10:g.(?_93297666)_(93299223_?)del
NC_000003.11:g.(?_197677829)_(197682654_?)del
NC_000003.11:g.(?_197677833)_(197682650_?)del
NC_000017.10:g.(?_7572921)_(8285634_?)del
NC_000019.9:g.(?_42373091)_(42375455_?)del
NM_000969.5(RPL5):c.132C>G (p.Tyr44Ter) rs1060503527
NM_000969.5(RPL5):c.157_169dup (p.Asn57fs)
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_000969.5(RPL5):c.173_174GA[1] (p.Asp59fs)
NM_000969.5(RPL5):c.187C>T (p.Gln63Ter) rs1558284062
NM_000969.5(RPL5):c.256dup (p.Tyr86fs) rs1553121909
NM_000969.5(RPL5):c.48C>G (p.Tyr16Ter)
NM_000969.5(RPL5):c.70C>T (p.Arg24Ter) rs1558283853
NM_000975.5(RPL11):c.111del (p.Lys38fs) rs1553121684
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.508-2A>G
NM_000975.5(RPL11):c.62_63del (p.Cys21fs)
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs) rs1560120302
NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter) rs1553811551
NM_001014.5(RPS10):c.285_292del (p.Arg96fs)
NM_001022.4(RPS19):c.173-2A>G
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln) rs1555841301
NM_001022.4(RPS19):c.294_295TG[3] (p.Ala100fs) rs1555841356
NM_001022.4(RPS19):c.384_385del (p.Asp130fs) rs869066130
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_002049.3(GATA1):c.166_187dup (p.Tyr63fs)
NM_002049.3(GATA1):c.21del (p.Ser8fs) rs1557020001
NM_002049.3(GATA1):c.5_8dup (p.Phe3fs)
NM_002049.3(GATA1):c.89C>G (p.Ser30Ter) rs1557020021
NM_002049.3(GATA1):c.94dup (p.Val32fs) rs1569499310
NM_033022.3(RPS24):c.13_14del (p.Val5fs)
NM_033022.3(RPS24):c.1A>G (p.Met1Val) rs886039545
NM_033022.3(RPS24):c.46C>T (p.Arg16Ter) rs104894189

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