ClinVar Miner

List of variants studied for Diamond-Blackfan anemia 7

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000975.4(RPL11):c.-37C>G rs10917413 0.98344
NM_000975.5(RPL11):c.339C>T (p.Ile113=) rs8880 0.02525
NM_000975.5(RPL11):c.*52A>G rs60606712 0.01119
NM_000975.5(RPL11):c.158-18G>C rs115017937 0.00330
NM_000975.5(RPL11):c.30C>T (p.Asn10=) rs139286202 0.00076
NM_000975.5(RPL11):c.396+9A>G rs201786327 0.00058
NM_000975.5(RPL11):c.153C>T (p.Ser51=) rs80133698 0.00025
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.158-7C>T rs768654673 0.00006
NM_000975.5(RPL11):c.-14T>C rs886046307 0.00002
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.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.124C>T (p.Gln42Ter)
NM_000975.5(RPL11):c.139A>G (p.Thr47Ala)
NM_000975.5(RPL11):c.14A>G (p.Gln5Arg) rs775235867
NM_000975.5(RPL11):c.158-1G>A rs151155897
NM_000975.5(RPL11):c.204del (p.Ile68fs) rs587777120
NM_000975.5(RPL11):c.223C>T (p.Arg75Ter) rs121434389
NM_000975.5(RPL11):c.238GAA[1] (p.Glu81del)
NM_000975.5(RPL11):c.264+3G>A
NM_000975.5(RPL11):c.270G>A (p.Arg90=) rs886046308
NM_000975.5(RPL11):c.28A>T (p.Asn10Tyr)
NM_000975.5(RPL11):c.43_49del (p.Leu15fs) rs1553121678
NM_000975.5(RPL11):c.465_466del (p.His155fs) rs1644530053
NM_000975.5(RPL11):c.476_477del (p.Lys159fs) rs587777119
NM_000975.5(RPL11):c.479AGG[1] (p.Glu161del) rs1570569083
NM_000975.5(RPL11):c.508-9_508-5del
NM_000975.5(RPL11):c.60_61del (p.Cys21fs) rs1570566590
NM_000975.5(RPL11):c.68A>G (p.Asn23Ser) rs2124429076
NM_000975.5(RPL11):c.94_97del (p.Asp31_Arg32insTer)
NM_000975.5(RPL11):c.95_96del (p.Arg32fs)

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