ClinVar Miner

List of variants in gene RPS26 studied for Diamond-Blackfan anemia 10

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Gene type:
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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_001029.5(RPS26):c.327T>A (p.Arg109=) rs56696262 0.08189
NM_001029.5(RPS26):c.-25C>T rs373484606 0.00150
NM_001029.5(RPS26):c.-35G>A rs188808121 0.00139
NM_001029.5(RPS26):c.-3A>G rs181174349 0.00056
NM_001029.5(RPS26):c.312G>A (p.Ala104=) rs145976784 0.00009
NM_001029.5(RPS26):c.63T>A (p.Ile21=) rs148167449 0.00008
NM_001029.5(RPS26):c.-33C>T rs372794158 0.00006
NM_001029.5(RPS26):c.60T>A (p.Pro20=) rs368838700 0.00005
NM_001029.5(RPS26):c.181+6T>G rs201848035 0.00004
NM_001029.5(RPS26):c.270A>G (p.Glu90=) rs139056836 0.00004
NM_001029.5(RPS26):c.181+10T>G rs201191387 0.00003
NM_001029.5(RPS26):c.207G>C (p.Val69=) rs776240183 0.00002
NM_001029.5(RPS26):c.-80C>T rs886049687 0.00001
NM_001029.5(RPS26):c.266G>A (p.Arg89His) rs764673368 0.00001
NM_001029.5(RPS26):c.291C>T (p.Pro97=) rs766621663 0.00001
NM_001029.5(RPS26):c.3+14C>T rs763770729 0.00001
NM_001029.5(RPS26):c.3+20G>C rs759864837 0.00001
NM_001029.5(RPS26):c.3+6T>G rs748437026 0.00001
NM_001029.5(RPS26):c.315T>A (p.Gly105=) rs554297156 0.00001
NM_001029.5(RPS26):c.42C>T (p.Gly14=) rs771196681 0.00001
NM_001029.5(RPS26):c.69C>T (p.Cys23=) rs986563758 0.00001
NM_001029.5(RPS26):c.81C>T (p.Ala27=) rs773982358 0.00001
NM_001029.5(RPS26):c.93C>T (p.Pro31=) rs760255764 0.00001
NC_000012.11:g.(?_56435951)_(56437938_?)dup
NM_001029.5(RPS26):c.*4G>A
NM_001029.5(RPS26):c.-130T>G rs1895889933
NM_001029.5(RPS26):c.-149G>T rs886049686
NM_001029.5(RPS26):c.-209T>G rs78108003
NM_001029.5(RPS26):c.-22C>G rs1131017
NM_001029.5(RPS26):c.-27C>T rs200831849
NM_001029.5(RPS26):c.-31C>G rs17118262
NM_001029.5(RPS26):c.-31C>T rs17118262
NM_001029.5(RPS26):c.-9G>T rs372708429
NM_001029.5(RPS26):c.119T>A (p.Val40Asp)
NM_001029.5(RPS26):c.120C>A (p.Val40=)
NM_001029.5(RPS26):c.120C>G (p.Val40=)
NM_001029.5(RPS26):c.129C>T (p.Asn43=)
NM_001029.5(RPS26):c.140C>T (p.Ala47Val)
NM_001029.5(RPS26):c.144A>G (p.Ala48=) rs150715896
NM_001029.5(RPS26):c.144A>T (p.Ala48=)
NM_001029.5(RPS26):c.157A>G (p.Ile53Val) rs1295092646
NM_001029.5(RPS26):c.170G>A (p.Ser57Asn)
NM_001029.5(RPS26):c.181+19C>G rs201040758
NM_001029.5(RPS26):c.181+1G>A
NM_001029.5(RPS26):c.181+1del rs1895903499
NM_001029.5(RPS26):c.181+6_181+7del rs746906342
NM_001029.5(RPS26):c.181+8G>C
NM_001029.5(RPS26):c.182-16_182-15del
NM_001029.5(RPS26):c.182-16_182-4del
NM_001029.5(RPS26):c.182-20C>T
NM_001029.5(RPS26):c.182-9A>G
NM_001029.5(RPS26):c.183C>G (p.Ala61=)
NM_001029.5(RPS26):c.196A>T (p.Lys66Ter) rs1895918140
NM_001029.5(RPS26):c.1A>G (p.Met1Val) rs143951267
NM_001029.5(RPS26):c.1A>T (p.Met1Leu) rs143951267
NM_001029.5(RPS26):c.201G>A (p.Leu67=) rs1371451613
NM_001029.5(RPS26):c.213A>G (p.Leu71=)
NM_001029.5(RPS26):c.224_225del (p.Val75fs) rs1555208596
NM_001029.5(RPS26):c.259C>T (p.Arg87Ter) rs148942765
NM_001029.5(RPS26):c.260G>A (p.Arg87Gln)
NM_001029.5(RPS26):c.266G>C (p.Arg89Pro) rs764673368
NM_001029.5(RPS26):c.274C>T (p.Arg92Cys)
NM_001029.5(RPS26):c.288A>G (p.Thr96=)
NM_001029.5(RPS26):c.290C>T (p.Pro97Leu)
NM_001029.5(RPS26):c.297C>T (p.Pro99=)
NM_001029.5(RPS26):c.2T>A (p.Met1Lys)
NM_001029.5(RPS26):c.2T>G (p.Met1Arg) rs1895894261
NM_001029.5(RPS26):c.3+10C>T
NM_001029.5(RPS26):c.3+12T>C
NM_001029.5(RPS26):c.3+13G>T rs199917474
NM_001029.5(RPS26):c.3+14C>A
NM_001029.5(RPS26):c.3+14C>G rs763770729
NM_001029.5(RPS26):c.3+1G>A rs148622862
NM_001029.5(RPS26):c.3+1G>T
NM_001029.5(RPS26):c.3+2T>G rs2136753495
NM_001029.5(RPS26):c.3+4A>C
NM_001029.5(RPS26):c.3+5G>C
NM_001029.5(RPS26):c.3+7C>G rs115750993
NM_001029.5(RPS26):c.3+7C>T rs115750993
NM_001029.5(RPS26):c.3+9T>A rs545595719
NM_001029.5(RPS26):c.307C>T (p.Pro103Ser)
NM_001029.5(RPS26):c.312+3G>A
NM_001029.5(RPS26):c.312+5_312+21del
NM_001029.5(RPS26):c.312+7A>G
NM_001029.5(RPS26):c.313-10dup
NM_001029.5(RPS26):c.313-17_313-14del rs771654280
NM_001029.5(RPS26):c.313-7C>T
NM_001029.5(RPS26):c.317C>G (p.Ala106Gly)
NM_001029.5(RPS26):c.31dup (p.Ala11fs) rs786200892
NM_001029.5(RPS26):c.327T>C (p.Arg109=) rs56696262
NM_001029.5(RPS26):c.328C>T (p.Pro110Ser)
NM_001029.5(RPS26):c.332C>T (p.Pro111Leu)
NM_001029.5(RPS26):c.333A>T (p.Pro111=) rs1179423823
NM_001029.5(RPS26):c.336A>G (p.Pro112=)
NM_001029.5(RPS26):c.340C>T (p.Pro114Ser)
NM_001029.5(RPS26):c.344T>C (p.Met115Thr)
NM_001029.5(RPS26):c.4-10C>T
NM_001029.5(RPS26):c.4-13C>T rs962158538
NM_001029.5(RPS26):c.4-1_6del
NM_001029.5(RPS26):c.4-2A>T rs786203998
NM_001029.5(RPS26):c.4-4G>T rs2136753773
NM_001029.5(RPS26):c.4-7G>C rs1288899882
NM_001029.5(RPS26):c.4-8_4-7delinsCT
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter) rs797045919
NM_001029.5(RPS26):c.61A>C (p.Ile21Leu) rs1392801928
NM_001029.5(RPS26):c.64C>G (p.Arg22Gly) rs762701251
NM_001029.5(RPS26):c.65G>A (p.Arg22His)
NM_001029.5(RPS26):c.70A>G (p.Thr24Ala)
NM_001029.5(RPS26):c.73_76del (p.Asn25fs) rs2136753850
NM_001029.5(RPS26):c.77G>A (p.Cys26Tyr)
NM_001029.5(RPS26):c.78_79del (p.Ala27fs)
NM_001029.5(RPS26):c.93C>G (p.Pro31=)
NM_001029.5(RPS26):c.95A>C (p.Lys32Thr)
NM_001029.5(RPS26):c.95A>G (p.Lys32Arg)
NM_001029.5(RPS26):c.96G>A (p.Lys32=) rs1472827120
NM_001029.5(RPS26):c.97G>A (p.Asp33Asn) rs267607023
NM_001029.5(RPS26):c.9G>C (p.Lys3Asn)
NM_001029.5(RPS26):c.9_12del (p.Lys4fs) rs2136753785

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