ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 5

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Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_000996.4(RPL35A):c.*14C>A rs10022 0.00200
NM_000996.4(RPL35A):c.266G>A (p.Arg89Gln) rs145244860 0.00199
NM_000996.4(RPL35A):c.-33G>A rs564722971 0.00133
NM_000996.4(RPL35A):c.165-16C>A rs373782117 0.00041
NM_000996.4(RPL35A):c.-32-3A>G rs200335648 0.00012
NM_000996.4(RPL35A):c.*6C>T rs116874993 0.00011
NM_000996.4(RPL35A):c.12-18G>A rs373448841 0.00007
NM_000996.4(RPL35A):c.21C>T (p.Ser7=) rs145660527 0.00006
NM_000996.4(RPL35A):c.34G>A (p.Ala12Thr) rs533670667 0.00006
NM_000996.4(RPL35A):c.12-5C>G rs541454864 0.00005
NM_000996.4(RPL35A):c.184G>T (p.Gly62Cys) rs146882967 0.00003
NM_000996.4(RPL35A):c.327G>A (p.Arg109=) rs754407977 0.00003
NM_000996.4(RPL35A):c.164+18G>A rs749642279 0.00002
NM_000996.4(RPL35A):c.-31C>T rs766043927 0.00001
NM_000996.4(RPL35A):c.101A>T (p.Tyr34Phe) rs773889184 0.00001
NM_000996.4(RPL35A):c.11+11T>C rs766619628 0.00001
NM_000996.4(RPL35A):c.11+17T>C rs780298603 0.00001
NM_000996.4(RPL35A):c.113A>G (p.Glu38Gly) rs1401148284 0.00001
NM_000996.4(RPL35A):c.12-13T>A rs778146996 0.00001
NM_000996.4(RPL35A):c.141C>T (p.Cys47=) rs1440792535 0.00001
NM_000996.4(RPL35A):c.253C>G (p.Arg85Gly) rs773689278 0.00001
NM_000996.4(RPL35A):c.270C>T (p.Ser90=) rs772084930 0.00001
NM_000996.4(RPL35A):c.28A>G (p.Ile10Val) rs553548757 0.00001
NM_000996.4(RPL35A):c.35C>T (p.Ala12Val) rs780895868 0.00001
NM_000996.4(RPL35A):c.55C>T (p.Arg19Trp) rs1349665099 0.00001
NM_000996.4(RPL35A):c.57G>A (p.Arg19=) rs769775044 0.00001
NM_000996.4(RPL35A):c.59A>G (p.Asn20Ser) rs1283030430 0.00001
GRCh38/hg38 3q29(chr3:197681032-198111976)x1
NC_000003.11:g.(?_197680864)_(197682644_?)del
NC_000003.12:g.(?_197950958)_(197955783_?)del
NC_000003.12:g.(?_197950958)_(197955783_?)dup
NC_000003.12:g.(?_197950962)_(197955779_?)del
NC_000003.12:g.(?_197950968)_(197955773_?)dup
NM_000996.4(RPL35A):c.*21T>A rs199693579
NM_000996.4(RPL35A):c.-32-2A>T
NM_000996.4(RPL35A):c.-37T>G rs886058265
NM_000996.4(RPL35A):c.105C>T (p.Ala35=)
NM_000996.4(RPL35A):c.109G>A (p.Asp37Asn) rs1401367420
NM_000996.4(RPL35A):c.11+3A>G
NM_000996.4(RPL35A):c.11+4C>T
NM_000996.4(RPL35A):c.11+6C>A
NM_000996.4(RPL35A):c.118_119del (p.Glu40fs) rs1560120302
NM_000996.4(RPL35A):c.12-10del rs765692254
NM_000996.4(RPL35A):c.12-18G>T
NM_000996.4(RPL35A):c.12-4T>G
NM_000996.4(RPL35A):c.12-5C>T
NM_000996.4(RPL35A):c.12-7G>T rs2109804559
NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)
NM_000996.4(RPL35A):c.138A>G (p.Arg46=)
NM_000996.4(RPL35A):c.147T>C (p.Tyr49=)
NM_000996.4(RPL35A):c.147del (p.Ala48_Tyr49insTer)
NM_000996.4(RPL35A):c.158C>G (p.Ala53Gly)
NM_000996.4(RPL35A):c.162G>T (p.Lys54Asn)
NM_000996.4(RPL35A):c.164+13C>T rs2109805109
NM_000996.4(RPL35A):c.164+15C>G rs890177445
NM_000996.4(RPL35A):c.164+15C>T
NM_000996.4(RPL35A):c.164+1G>A rs113752862
NM_000996.4(RPL35A):c.165-15C>G
NM_000996.4(RPL35A):c.165-20C>T
NM_000996.4(RPL35A):c.16T>C (p.Trp6Arg)
NM_000996.4(RPL35A):c.183C>T (p.Gly61=) rs370212853
NM_000996.4(RPL35A):c.184G>A (p.Gly62Ser)
NM_000996.4(RPL35A):c.186C>T (p.Gly62=)
NM_000996.4(RPL35A):c.202A>G (p.Arg68Gly)
NM_000996.4(RPL35A):c.204A>G (p.Arg68=)
NM_000996.4(RPL35A):c.209T>C (p.Ile70Thr)
NM_000996.4(RPL35A):c.212G>A (p.Trp71Ter) rs1553811551
NM_000996.4(RPL35A):c.253C>T (p.Arg85Cys)
NM_000996.4(RPL35A):c.258C>A (p.Ala86=)
NM_000996.4(RPL35A):c.258del (p.Lys87fs) rs1581106084
NM_000996.4(RPL35A):c.271A>G (p.Asn91Asp) rs1560123334
NM_000996.4(RPL35A):c.278C>T (p.Pro93Leu)
NM_000996.4(RPL35A):c.282T>C (p.Ala94=) rs201018840
NM_000996.4(RPL35A):c.282T>G (p.Ala94=)
NM_000996.4(RPL35A):c.289A>G (p.Ile97Val)
NM_000996.4(RPL35A):c.301A>G (p.Ile101Val)
NM_000996.4(RPL35A):c.304C>T (p.Arg102Ter) rs116840809
NM_000996.4(RPL35A):c.309+3G>C
NM_000996.4(RPL35A):c.309+4A>T rs1270507770
NM_000996.4(RPL35A):c.309+7A>G
NM_000996.4(RPL35A):c.310-20G>A rs200360699
NM_000996.4(RPL35A):c.310-20G>C rs200360699
NM_000996.4(RPL35A):c.310-6del rs2109818917
NM_000996.4(RPL35A):c.320C>T (p.Pro107Leu) rs2109818973
NM_000996.4(RPL35A):c.321C>T (p.Pro107=)
NM_000996.4(RPL35A):c.324A>G (p.Ser108=) rs751160471
NM_000996.4(RPL35A):c.332A>G (p.Ter111=)
NM_000996.4(RPL35A):c.33T>C (p.Phe11=) rs751752645
NM_000996.4(RPL35A):c.41A>T (p.Tyr14Phe) rs1366033915
NM_000996.4(RPL35A):c.44A>G (p.Lys15Arg)
NM_000996.4(RPL35A):c.75A>G (p.Thr25=) rs1244935223
NM_000996.4(RPL35A):c.77C>T (p.Ala26Val) rs2109804811
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del) rs116840807
NM_000996.4(RPL35A):c.85A>G (p.Lys29Glu)
NM_000996.4(RPL35A):c.89T>C (p.Ile30Thr) rs1720051488
NM_000996.4(RPL35A):c.90T>C (p.Ile30=) rs2109804838
NM_000996.4(RPL35A):c.97G>A (p.Val33Ile) rs116840808

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