ClinVar Miner

List of variants in gene RPL11 reported as uncertain significance for aplastic anemia

Included ClinVar conditions (98):
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Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000975.5(RPL11):c.396+9A>G rs201786327 0.00058
NM_000975.5(RPL11):c.158-7C>T rs768654673 0.00006
NM_000975.5(RPL11):c.258T>G (p.Gly86=) rs760885169 0.00002
NM_000975.5(RPL11):c.452T>C (p.Ile151Thr) rs754966145 0.00002
NM_000975.5(RPL11):c.23A>G (p.Lys8Arg) rs760498453 0.00001
NM_000975.5(RPL11):c.264+9A>T rs777041270 0.00001
NM_000975.5(RPL11):c.287A>G (p.Lys96Arg) rs369949969 0.00001
NM_000975.5(RPL11):c.306T>C (p.Thr102=) rs886046309 0.00001
NM_000975.5(RPL11):c.454G>A (p.Gly152Arg) rs766991539 0.00001
NM_000975.5(RPL11):c.139A>G (p.Thr47Ala)
NM_000975.5(RPL11):c.142C>T (p.Pro48Ser)
NM_000975.5(RPL11):c.14A>G (p.Gln5Arg) rs775235867
NM_000975.5(RPL11):c.203T>C (p.Ile68Thr) rs1644517016
NM_000975.5(RPL11):c.214T>C (p.Cys72Arg)
NM_000975.5(RPL11):c.217A>G (p.Thr73Ala)
NM_000975.5(RPL11):c.236C>T (p.Ala79Val)
NM_000975.5(RPL11):c.238GAA[1] (p.Glu81del)
NM_000975.5(RPL11):c.264+3G>A
NM_000975.5(RPL11):c.264+4A>T
NM_000975.5(RPL11):c.269G>A (p.Arg90Gln) rs757131066
NM_000975.5(RPL11):c.270G>A (p.Arg90=) rs886046308
NM_000975.5(RPL11):c.28A>T (p.Asn10Tyr)
NM_000975.5(RPL11):c.325A>G (p.Ile109Val)
NM_000975.5(RPL11):c.38G>A (p.Arg13Gln)
NM_000975.5(RPL11):c.396+3A>G
NM_000975.5(RPL11):c.397-11_397-10delinsAT
NM_000975.5(RPL11):c.400C>A (p.Leu134Met) rs1644529675
NM_000975.5(RPL11):c.430AAG[1] (p.Lys145del)
NM_000975.5(RPL11):c.431A>G (p.Lys144Arg)
NM_000975.5(RPL11):c.437G>A (p.Arg146His)
NM_000975.5(RPL11):c.437G>T (p.Arg146Leu)
NM_000975.5(RPL11):c.463_508-69del
NM_000975.5(RPL11):c.478G>C (p.Glu160Gln)
NM_000975.5(RPL11):c.490C>T (p.Arg164Cys)
NM_000975.5(RPL11):c.508-3C>G
NM_000975.5(RPL11):c.508-9_508-5del
NM_000975.5(RPL11):c.518T>A (p.Ile173Asn)
NM_000975.5(RPL11):c.53_58del (p.Arg18_Lys19del)
NM_000975.5(RPL11):c.68A>G (p.Asn23Ser) rs2124429076
NM_000975.5(RPL11):c.7-1G>T rs1644507858
NM_000975.5(RPL11):c.7C>G (p.Gln3Glu)
NM_000975.5(RPL11):c.9G>A (p.Gln3=)

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