ClinVar Miner

List of variants in gene combination RPS10, RPS10-NUDT3 reported as uncertain significance for Diamond-Blackfan anemia

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001014.5(RPS10):c.400C>T (p.Pro134Ser) rs759213353 0.00004
NM_001014.5(RPS10):c.479G>A (p.Arg160His) rs139095177 0.00004
NM_001014.5(RPS10):c.89C>T (p.Pro30Leu) rs755445102 0.00003
NM_001014.5(RPS10):c.164G>A (p.Arg55Gln) rs1765898082 0.00001
NM_001014.5(RPS10):c.40C>T (p.Leu14Phe) rs1426463647 0.00001
NM_001014.5(RPS10):c.425C>T (p.Ala142Val) rs1765648018 0.00001
NM_001014.5(RPS10):c.-32del rs767826894
NM_001014.5(RPS10):c.-38_-37del rs1581933797
NM_001014.5(RPS10):c.106G>A (p.Ala36Thr)
NM_001014.5(RPS10):c.121C>A (p.Pro41Thr)
NM_001014.5(RPS10):c.134T>A (p.Val45Asp)
NM_001014.5(RPS10):c.136A>G (p.Met46Val)
NM_001014.5(RPS10):c.150+6_150+8del
NM_001014.5(RPS10):c.151-17A>G
NM_001014.5(RPS10):c.151-19G>A
NM_001014.5(RPS10):c.164G>T (p.Arg55Leu)
NM_001014.5(RPS10):c.19A>T (p.Asn7Tyr)
NM_001014.5(RPS10):c.202T>C (p.Tyr68His)
NM_001014.5(RPS10):c.222G>A (p.Glu74=) rs1581931578
NM_001014.5(RPS10):c.222G>C (p.Glu74Asp)
NM_001014.5(RPS10):c.22C>T (p.Arg8Trp)
NM_001014.5(RPS10):c.26T>C (p.Ile9Thr)
NM_001014.5(RPS10):c.282_284dup (p.Arg96_Ser97insArg)
NM_001014.5(RPS10):c.289_294dup (p.Arg98_Pro99insSerArg)
NM_001014.5(RPS10):c.291C>G (p.Ser97Arg)
NM_001014.5(RPS10):c.293G>A (p.Arg98His)
NM_001014.5(RPS10):c.294_314dup (p.Glu100_Pro106dup) rs1765891593
NM_001014.5(RPS10):c.313C>T (p.Arg105Trp)
NM_001014.5(RPS10):c.317C>T (p.Pro106Leu)
NM_001014.5(RPS10):c.322+3A>G rs556255412
NM_001014.5(RPS10):c.344C>T (p.Ala115Val)
NM_001014.5(RPS10):c.34T>C (p.Tyr12His) rs2113806064
NM_001014.5(RPS10):c.371G>A (p.Arg124Lys) rs757956413
NM_001014.5(RPS10):c.385C>T (p.Arg129Trp) rs752436029
NM_001014.5(RPS10):c.403G>T (p.Gly135Cys)
NM_001014.5(RPS10):c.409G>A (p.Asp137Asn)
NM_001014.5(RPS10):c.456+3_456+6del rs1765647224
NM_001014.5(RPS10):c.457A>G (p.Arg153Gly)
NM_001014.5(RPS10):c.463G>A (p.Gly155Arg)
NM_001014.5(RPS10):c.473G>A (p.Arg158His)
NM_001014.5(RPS10):c.481G>T (p.Gly161Cys)
NM_001014.5(RPS10):c.493C>G (p.Gln165Glu)
NM_001014.5(RPS10):c.98C>T (p.Pro33Leu)

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