ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 6

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Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806 0.02253
NM_000969.5(RPL5):c.-55C>G rs116168890 0.00583
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832 0.00574
NM_000969.5(RPL5):c.258T>C (p.Tyr86=) rs113792800 0.00472
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_000969.5(RPL5):c.-52C>G rs143326916 0.00232
NM_000969.5(RPL5):c.*47T>C rs72968037 0.00213
NM_000969.5(RPL5):c.325-11T>G rs145058455 0.00169
NM_000969.5(RPL5):c.3+13C>T rs189107197 0.00165
NM_000969.5(RPL5):c.-42A>C rs145634330 0.00150
NM_000969.5(RPL5):c.189+267G>C rs138979590 0.00053
NM_000969.5(RPL5):c.423C>T (p.Ala141=) rs138277390 0.00045
NM_000969.5(RPL5):c.3+12C>T rs200130961 0.00040
NM_000969.5(RPL5):c.-62C>G rs368663464 0.00032
NM_000969.5(RPL5):c.324+14G>T rs200772479 0.00030
NM_000969.5(RPL5):c.408T>C (p.Asp136=) rs142297836 0.00024
NM_000969.5(RPL5):c.141C>T (p.Pro47=) rs150375325 0.00018
NM_000969.5(RPL5):c.-48G>A rs376070413 0.00017
NM_000969.5(RPL5):c.-18C>A rs201295012 0.00013
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406 0.00008
NM_000969.5(RPL5):c.691G>A (p.Val231Ile) rs568863745 0.00006
NM_000969.5(RPL5):c.228C>T (p.Cys76=) rs370284124 0.00005
NM_000969.5(RPL5):c.-6C>T rs199523145 0.00004
NM_000969.5(RPL5):c.403A>G (p.Ile135Val) rs200075817 0.00004
NM_000969.5(RPL5):c.781G>C (p.Val261Leu) rs773839391 0.00004
NM_000969.5(RPL5):c.269T>C (p.Val90Ala) rs775952185 0.00003
NM_000969.5(RPL5):c.320G>A (p.Arg107His) rs751845365 0.00003
NM_000969.5(RPL5):c.517A>G (p.Ile173Val) rs754245145 0.00003
NM_000969.5(RPL5):c.599T>C (p.Met200Thr) rs773325598 0.00003
NM_000969.5(RPL5):c.103C>T (p.Arg35Cys) rs772575122 0.00002
NM_000969.5(RPL5):c.794+8G>A rs907325546 0.00002
NM_000969.5(RPL5):c.202C>T (p.Arg68Cys) rs750383596 0.00001
NM_000969.5(RPL5):c.229G>A (p.Ala77Thr) rs752867126 0.00001
NM_000969.5(RPL5):c.235T>A (p.Tyr79Asn) rs1043234543 0.00001
NM_000969.5(RPL5):c.309G>T (p.Leu103=) rs760490644 0.00001
NM_000969.5(RPL5):c.4-4T>C rs746944177 0.00001
NM_000969.5(RPL5):c.435T>C (p.Tyr145=) rs188046229 0.00001
NM_000969.5(RPL5):c.587G>A (p.Arg196Gln) rs771013653 0.00001
NM_000969.5(RPL5):c.625C>T (p.Arg209Cys) rs770095159 0.00001
NM_000969.5(RPL5):c.642A>T (p.Glu214Asp) rs764296257 0.00001
NM_000969.5(RPL5):c.803G>A (p.Arg268His) rs765443248 0.00001
NM_000969.5(RPL5):c.846A>G (p.Gln282=) rs376641112 0.00001
GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1
NM_000969.5(RPL5):c.-2G>A rs886046558
NM_000969.5(RPL5):c.-38C>T rs372080902
NM_000969.5(RPL5):c.-46C>G rs376208311
NM_000969.5(RPL5):c.-58G>T rs200437092
NM_000969.5(RPL5):c.-64C>G rs1006135937
NM_000969.5(RPL5):c.-70T>A rs551112484
NM_000969.5(RPL5):c.-74C>A rs752282235
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_000969.5(RPL5):c.122_144del (p.Lys41fs) rs2100676969
NM_000969.5(RPL5):c.134A>G (p.Asn45Ser)
NM_000969.5(RPL5):c.155_156dup (p.Val53Ter) rs2100677045
NM_000969.5(RPL5):c.161G>A (p.Arg54His)
NM_000969.5(RPL5):c.169_172del (p.Asn57fs) rs1558284033
NM_000969.5(RPL5):c.170A>G (p.Asn57Ser) rs1553285028
NM_000969.5(RPL5):c.175_176del (p.Asp59fs) rs1571024430
NM_000969.5(RPL5):c.176A>G (p.Asp59Gly)
NM_000969.5(RPL5):c.178_179del (p.Ile60fs)
NM_000969.5(RPL5):c.189+15A>G
NM_000969.5(RPL5):c.189+1G>C
NM_000969.5(RPL5):c.189+2T>G rs1687004626
NM_000969.5(RPL5):c.203G>A (p.Arg68His)
NM_000969.5(RPL5):c.208G>A (p.Glu70Lys)
NM_000969.5(RPL5):c.233C>G (p.Ala78Gly)
NM_000969.5(RPL5):c.235dup (p.Tyr79fs) rs1571026775
NM_000969.5(RPL5):c.236A>T (p.Tyr79Phe)
NM_000969.5(RPL5):c.236del (p.Tyr79fs)
NM_000969.5(RPL5):c.244G>T (p.Glu82Ter) rs587777117
NM_000969.5(RPL5):c.268del (p.Val90fs) rs1687054029
NM_000969.5(RPL5):c.289G>A (p.Ala97Thr)
NM_000969.5(RPL5):c.3+11G>A rs376414614
NM_000969.5(RPL5):c.3+11G>C rs376414614
NM_000969.5(RPL5):c.3+1G>A
NM_000969.5(RPL5):c.316G>T (p.Ala106Ser)
NM_000969.5(RPL5):c.325-14G>A
NM_000969.5(RPL5):c.344T>C (p.Met115Thr) rs1687118423
NM_000969.5(RPL5):c.4-10T>C rs1686989669
NM_000969.5(RPL5):c.400A>C (p.Ser134Arg) rs1687120549
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu) rs11540836
NM_000969.5(RPL5):c.459_460insTGAA (p.Thr154Ter) rs1687123286
NM_000969.5(RPL5):c.509del (p.Gly170fs)
NM_000969.5(RPL5):c.527+1G>T rs2100685111
NM_000969.5(RPL5):c.528-1G>A
NM_000969.5(RPL5):c.541_545delinsGT (p.Pro181_Gly182delinsVal)
NM_000969.5(RPL5):c.559A>C (p.Ser187Arg)
NM_000969.5(RPL5):c.566A>G (p.Glu189Gly)
NM_000969.5(RPL5):c.586C>T (p.Arg196Trp)
NM_000969.5(RPL5):c.613dup (p.Ala205fs) rs2100688414
NM_000969.5(RPL5):c.661A>G (p.Lys221Glu)
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.692dup (p.Thr232fs) rs1571032029
NM_000969.5(RPL5):c.700G>T (p.Asp234Tyr) rs938367538
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly) rs576330538
NM_000969.5(RPL5):c.715A>G (p.Met239Val)
NM_000969.5(RPL5):c.72A>G (p.Arg24=)
NM_000969.5(RPL5):c.73+2T>G rs142156224
NM_000969.5(RPL5):c.779A>C (p.Glu260Ala)
NM_000969.5(RPL5):c.794+16_794+19del rs747509136
NM_000969.5(RPL5):c.794+19dup rs747509136
NM_000969.5(RPL5):c.838G>A (p.Val280Ile) rs1687377449
NM_000969.5(RPL5):c.878G>A (p.Arg293Gln)
NM_000969.5(RPL5):c.890_893dup (p.Ter298=) rs1687379541
NM_000969.5(RPL5):c.[189+267G>C;189+288A>G;189+309A>G;189+364G>A;189+387A>T]
RPL5, 5-BP DEL/39-BP INS, NT498

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