ClinVar Miner

List of variants reported as uncertain significance 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_000010.10:g.(?_79795104)_(79799970_?)dup
NC_000017.10:g.(?_8280834)_(8283254_?)dup
NC_000019.9:g.(?_42363988)_(42364359_?)del
NM_000969.5(RPL5):c.170A>G (p.Asn57Ser) rs1553285028
NM_000969.5(RPL5):c.229G>A (p.Ala77Thr)
NM_000969.5(RPL5):c.269T>C (p.Val90Ala)
NM_000969.5(RPL5):c.613G>A (p.Ala205Thr)
NM_000969.5(RPL5):c.700G>T (p.Asp234Tyr) rs938367538
NM_000969.5(RPL5):c.803G>A (p.Arg268His)
NM_000969.5(RPL5):c.868G>A (p.Ala290Thr) rs1060503545
NM_000975.5(RPL11):c.4G>T (p.Ala2Ser) rs1553121574
NM_000975.5(RPL11):c.5C>T (p.Ala2Val)
NM_000987.5(RPL26):c.153G>A (p.Lys51=)
NM_000987.5(RPL26):c.259C>T (p.Arg87Trp) rs878854147
NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp) rs1560123334
NM_000996.4(RPL35A):c.309+4A>T rs1270507770
NM_001011.4(RPS7):c.274_276GTC[1] (p.Val93del) rs1553342919
NM_001011.4(RPS7):c.433C>T (p.Arg145Cys)
NM_001011.4(RPS7):c.518T>C (p.Phe173Ser) rs1558474062
NM_001014.5(RPS10):c.222G>A (p.Glu74=)
NM_001014.5(RPS10):c.261G>A (p.Pro87=) rs781484971
NM_001022.4(RPS19):c.164C>T (p.Thr55Met) rs147508369
NM_001022.4(RPS19):c.175_176delinsCT (p.Ser59Leu)
NM_001022.4(RPS19):c.410A>G (p.Gln137Arg)
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) rs143477104
NM_001029.5(RPS26):c.312G>A (p.Ala104=)
NM_002049.3(GATA1):c.242T>C (p.Leu81Pro) rs1557020166
NM_002049.3(GATA1):c.419G>A (p.Arg140Gln) rs997764249
NM_002049.3(GATA1):c.479A>G (p.Asn160Ser) rs59609788
NM_002049.3(GATA1):c.480T>G (p.Asn160Lys) rs143332634
NM_002049.3(GATA1):c.529G>A (p.Gly177Arg) rs1482381233
NM_002049.3(GATA1):c.752_754delinsTT (p.Ser251fs)
NM_002049.3(GATA1):c.892C>T (p.Arg298Trp) rs1060501251
NM_002049.3(GATA1):c.94G>A (p.Val32Ile) rs782698349
NM_033022.3(RPS24):c.91G>A (p.Gly31Arg)

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