ClinVar Miner

List of variants in gene combination DIPK1A, RPL5 reported as uncertain significance for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_000969.5(RPL5):c.*1A>G rs11540833 0.00126
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.403A>G (p.Ile135Val) rs200075817 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.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.266A>G (p.Lys89Arg) rs1314815534 0.00001
NM_000969.5(RPL5):c.587G>A (p.Arg196Gln) rs771013653 0.00001
NM_000969.5(RPL5):c.589A>G (p.Lys197Glu) rs776644546 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.666G>C (p.Gln222His) rs767163981 0.00001
NM_000969.5(RPL5):c.803G>A (p.Arg268His) rs765443248 0.00001
NC_000001.10:g.(?_93306098)_(93307422_?)dup
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_000969.5(RPL5):c.161G>C (p.Arg54Pro)
NM_000969.5(RPL5):c.170A>G (p.Asn57Ser) rs1553285028
NM_000969.5(RPL5):c.179T>C (p.Ile60Thr)
NM_000969.5(RPL5):c.189+5G>A
NM_000969.5(RPL5):c.190-3T>C
NM_000969.5(RPL5):c.192T>G (p.Ile64Met)
NM_000969.5(RPL5):c.208G>A (p.Glu70Lys)
NM_000969.5(RPL5):c.220A>G (p.Ile74Val)
NM_000969.5(RPL5):c.225C>G (p.Val75=) rs2100680579
NM_000969.5(RPL5):c.232G>A (p.Ala78Thr)
NM_000969.5(RPL5):c.233C>G (p.Ala78Gly)
NM_000969.5(RPL5):c.236A>T (p.Tyr79Phe)
NM_000969.5(RPL5):c.244G>A (p.Glu82Lys) rs587777117
NM_000969.5(RPL5):c.251C>G (p.Pro84Arg) rs970129317
NM_000969.5(RPL5):c.257A>G (p.Tyr86Cys)
NM_000969.5(RPL5):c.298T>G (p.Cys100Gly) rs2100680814
NM_000969.5(RPL5):c.316G>A (p.Ala106Thr) rs1687056401
NM_000969.5(RPL5):c.319C>T (p.Arg107Cys)
NM_000969.5(RPL5):c.325-14G>A
NM_000969.5(RPL5):c.332A>G (p.Asn111Ser)
NM_000969.5(RPL5):c.335G>A (p.Arg112Lys)
NM_000969.5(RPL5):c.344T>C (p.Met115Thr) rs1687118423
NM_000969.5(RPL5):c.35A>G (p.Tyr12Cys) rs1686991615
NM_000969.5(RPL5):c.367G>C (p.Val123Leu)
NM_000969.5(RPL5):c.377C>T (p.Thr126Ile)
NM_000969.5(RPL5):c.391A>G (p.Asn131Asp)
NM_000969.5(RPL5):c.4-10T>C rs1686989669
NM_000969.5(RPL5):c.400A>C (p.Ser134Arg) rs1687120549
NM_000969.5(RPL5):c.404T>C (p.Ile135Thr) rs771599532
NM_000969.5(RPL5):c.415C>T (p.Pro139Ser)
NM_000969.5(RPL5):c.419G>A (p.Gly140Asp) rs367631074
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu) rs11540836
NM_000969.5(RPL5):c.427A>G (p.Thr143Ala)
NM_000969.5(RPL5):c.443C>T (p.Ala148Val)
NM_000969.5(RPL5):c.448C>T (p.Leu150Phe)
NM_000969.5(RPL5):c.528-1G>A
NM_000969.5(RPL5):c.556G>C (p.Glu186Gln)
NM_000969.5(RPL5):c.559A>C (p.Ser187Arg)
NM_000969.5(RPL5):c.566A>G (p.Glu189Gly)
NM_000969.5(RPL5):c.567A>C (p.Glu189Asp)
NM_000969.5(RPL5):c.583C>A (p.His195Asn)
NM_000969.5(RPL5):c.586C>T (p.Arg196Trp)
NM_000969.5(RPL5):c.598A>G (p.Met200Val)
NM_000969.5(RPL5):c.601G>A (p.Gly201Ser)
NM_000969.5(RPL5):c.611T>C (p.Val204Ala) rs1687176905
NM_000969.5(RPL5):c.613G>A (p.Ala205Thr) rs1571031819
NM_000969.5(RPL5):c.614C>G (p.Ala205Gly)
NM_000969.5(RPL5):c.626G>T (p.Arg209Leu)
NM_000969.5(RPL5):c.631T>A (p.Leu211Ile)
NM_000969.5(RPL5):c.674A>C (p.Gln225Pro) rs1687179289
NM_000969.5(RPL5):c.695C>T (p.Thr232Ile)
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.703A>G (p.Met235Val)
NM_000969.5(RPL5):c.705+4A>G
NM_000969.5(RPL5):c.705G>A (p.Met235Ile)
NM_000969.5(RPL5):c.715A>G (p.Met239Val)
NM_000969.5(RPL5):c.718T>C (p.Tyr240His) rs2100696942
NM_000969.5(RPL5):c.72A>G (p.Arg24=)
NM_000969.5(RPL5):c.761A>G (p.Glu254Gly)
NM_000969.5(RPL5):c.763AAG[1] (p.Lys256del) rs1571038275
NM_000969.5(RPL5):c.779A>C (p.Glu260Ala)
NM_000969.5(RPL5):c.785A>G (p.Lys262Arg)
NM_000969.5(RPL5):c.788A>G (p.Lys263Arg)
NM_000969.5(RPL5):c.831G>T (p.Lys277Asn)
NM_000969.5(RPL5):c.832G>A (p.Asp278Asn) rs764283613
NM_000969.5(RPL5):c.838G>A (p.Val280Ile) rs1687377449
NM_000969.5(RPL5):c.854C>A (p.Ala285Glu)
NM_000969.5(RPL5):c.856A>G (p.Ser286Gly)
NM_000969.5(RPL5):c.858C>T (p.Ser286=)
NM_000969.5(RPL5):c.868G>A (p.Ala290Thr) rs1060503545
NM_000969.5(RPL5):c.877C>T (p.Arg293Trp)
NM_000969.5(RPL5):c.889A>C (p.Ser297Arg)
NM_000969.5(RPL5):c.890_893dup (p.Ter298=) rs1687379541
NM_000969.5(RPL5):c.891C>A (p.Ser297Arg)

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