ClinVar Miner

List of variants in gene RPL11 reported as likely benign for Diamond-Blackfan anemia 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000975.5(RPL11):c.7-20G>T rs142110379 0.00180
NM_000975.5(RPL11):c.30C>T (p.Asn10=) rs139286202 0.00076
NM_000975.5(RPL11):c.171C>G (p.Val57=) rs149087936 0.00035
NM_000975.5(RPL11):c.102G>A (p.Thr34=) rs199772693 0.00022
NM_000975.5(RPL11):c.397-4A>G rs371228733 0.00021
NM_000975.5(RPL11):c.213C>T (p.His71=) rs562572818 0.00016
NM_000975.5(RPL11):c.158-7C>T rs768654673 0.00006
NM_000975.5(RPL11):c.300A>G (p.Ser100=) rs372622822 0.00006
NM_000975.5(RPL11):c.378C>T (p.Tyr126=) rs774450430 0.00006
NM_000975.5(RPL11):c.117G>A (p.Val39=) rs746752024 0.00004
NM_000975.5(RPL11):c.258T>G (p.Gly86=) rs760885169 0.00002
NM_000975.5(RPL11):c.33C>T (p.Pro11=) rs764637448 0.00002
NM_000975.5(RPL11):c.507+8T>C rs757566843 0.00002
NM_000975.5(RPL11):c.24G>A (p.Lys8=) rs143617222 0.00001
NM_000975.5(RPL11):c.264+9A>T rs777041270 0.00001
NM_000975.5(RPL11):c.306T>C (p.Thr102=) rs886046309 0.00001
NM_000975.5(RPL11):c.72C>T (p.Ile24=) rs781675016 0.00001
NM_000975.5(RPL11):c.118T>C (p.Leu40=)
NM_000975.5(RPL11):c.123G>A (p.Glu41=)
NM_000975.5(RPL11):c.157+12C>A
NM_000975.5(RPL11):c.157+7dup
NM_000975.5(RPL11):c.157+9T>G
NM_000975.5(RPL11):c.158-7C>G rs768654673
NM_000975.5(RPL11):c.168T>C (p.Thr56=)
NM_000975.5(RPL11):c.174A>G (p.Arg58=)
NM_000975.5(RPL11):c.180T>C (p.Phe60=)
NM_000975.5(RPL11):c.189G>A (p.Arg63=) rs764531667
NM_000975.5(RPL11):c.219A>G (p.Thr73=)
NM_000975.5(RPL11):c.222T>G (p.Val74=)
NM_000975.5(RPL11):c.264+11_264+12insA
NM_000975.5(RPL11):c.264+12C>G
NM_000975.5(RPL11):c.264+13C>T
NM_000975.5(RPL11):c.264+15C>A rs765761574
NM_000975.5(RPL11):c.264+16del
NM_000975.5(RPL11):c.265-6C>T
NM_000975.5(RPL11):c.268C>A (p.Arg90=)
NM_000975.5(RPL11):c.285A>G (p.Arg95=)
NM_000975.5(RPL11):c.343C>T (p.Leu115=) rs770189198
NM_000975.5(RPL11):c.345G>A (p.Leu115=)
NM_000975.5(RPL11):c.360C>T (p.Asp120=)
NM_000975.5(RPL11):c.375C>T (p.Ile125=) rs2124431138
NM_000975.5(RPL11):c.393T>C (p.Tyr131=)
NM_000975.5(RPL11):c.426A>G (p.Ala142=)
NM_000975.5(RPL11):c.438C>A (p.Arg146=)
NM_000975.5(RPL11):c.498C>T (p.Phe166=)
NM_000975.5(RPL11):c.504G>A (p.Gln168=)
NM_000975.5(RPL11):c.507+16C>T
NM_000975.5(RPL11):c.508-12C>G
NM_000975.5(RPL11):c.508-14C>T
NM_000975.5(RPL11):c.508-20_508-17del
NM_000975.5(RPL11):c.508-7C>T
NM_000975.5(RPL11):c.60C>G (p.Leu20=) rs2124429060
NM_000975.5(RPL11):c.7-10C>T rs773406981
NM_000975.5(RPL11):c.7-19C>T
NM_000975.5(RPL11):c.7-6T>G
NM_000975.5(RPL11):c.7-7G>C
NM_000975.5(RPL11):c.7-9C>T rs558662093
NM_000975.5(RPL11):c.75T>C (p.Cys25=)
NM_000975.5(RPL11):c.87T>C (p.Ser29=)
NM_000975.5(RPL11):c.94A>C (p.Arg32=)

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