ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 6 by Illumina Laboratory Services, Illumina

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Total variants: 32
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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.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.-48G>A rs376070413 0.00017
NM_000969.5(RPL5):c.-18C>A rs201295012 0.00013
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.202C>T (p.Arg68Cys) rs750383596 0.00001
NM_000969.5(RPL5):c.642A>T (p.Glu214Asp) rs764296257 0.00001
NM_000969.5(RPL5):c.846A>G (p.Gln282=) rs376641112 0.00001
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.3+11G>C rs376414614
NM_000969.5(RPL5):c.4-10T>C rs1686989669
NM_000969.5(RPL5):c.400A>C (p.Ser134Arg) rs1687120549

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