ClinVar Miner

List of variants studied for Coffin-Lowry syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=) rs2230488 0.24795
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00128
NC_000023.10:g.(20185970_20187287)_(20191368_20193188)del
NG_007488.1:g.67535_67536ins[N[2800];67522_67535]
NM_004586.3(RPS6KA3):c.1000-2A>G rs2148664125
NM_004586.3(RPS6KA3):c.1022del (p.His341fs) rs2148664069
NM_004586.3(RPS6KA3):c.1052_1056delinsTGAG (p.Pro351fs)
NM_004586.3(RPS6KA3):c.1152del (p.Phe385fs) rs2148662359
NM_004586.3(RPS6KA3):c.1166C>A (p.Ala389Asp) rs2519675851
NM_004586.3(RPS6KA3):c.1308C>A (p.Cys436Ter) rs1160828151
NM_004586.3(RPS6KA3):c.1354-12T>G
NM_004586.3(RPS6KA3):c.1376A>T (p.Asp459Val) rs2148653302
NM_004586.3(RPS6KA3):c.1428_1430del (p.Ile477del) rs1603420690
NM_004586.3(RPS6KA3):c.1443+6T>C rs2067519822
NM_004586.3(RPS6KA3):c.1444_1959dup (p.Val482_Lys653dup)
NM_004586.3(RPS6KA3):c.1460A>T (p.Lys487Met) rs2148650076
NM_004586.3(RPS6KA3):c.1483C>A (p.Leu495Ile) rs937495958
NM_004586.3(RPS6KA3):c.1507G>C (p.Asp503His) rs2067475470
NM_004586.3(RPS6KA3):c.1540C>T (p.Arg514Ter) rs2519640130
NM_004586.3(RPS6KA3):c.1686dup (p.Gly563fs) rs2519625017
NM_004586.3(RPS6KA3):c.1762G>C (p.Glu588Gln) rs1555927532
NM_004586.3(RPS6KA3):c.1823T>G (p.Leu608Arg) rs2067342745
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter) rs1085307639
NM_004586.3(RPS6KA3):c.1959+2dup rs1057518853
NM_004586.3(RPS6KA3):c.1960-6_1971del rs2519573579
NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs) rs1555924704
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter) rs1603417440
NM_004586.3(RPS6KA3):c.2021T>G (p.Leu674Arg)
NM_004586.3(RPS6KA3):c.2065C>T (p.Gln689Ter) rs122454128
NM_004586.3(RPS6KA3):c.2101-2A>G rs2519568342
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter) rs2068650679
NM_004586.3(RPS6KA3):c.2144del (p.Ser715fs) rs1603417213
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln) rs28935171
NM_004586.3(RPS6KA3):c.2196del (p.Ile735fs) rs1603417191
NM_004586.3(RPS6KA3):c.2204T>A (p.Ile735Asn) rs2519567556
NM_004586.3(RPS6KA3):c.224G>T (p.Gly75Val) rs122454124
NM_004586.3(RPS6KA3):c.243+1G>A rs1603428228
NM_004586.3(RPS6KA3):c.244-1G>A rs2519798151
NM_004586.3(RPS6KA3):c.244G>T (p.Val82Phe) rs122454126
NM_004586.3(RPS6KA3):c.326-11A>G rs1555943503
NM_004586.3(RPS6KA3):c.326-1G>C rs587776755
NM_004586.3(RPS6KA3):c.327del (p.Arg110fs) rs1555943492
NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter) rs1555943484
NM_004586.3(RPS6KA3):c.334C>T (p.Arg112Ter) rs1555943479
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp) rs122454127
NM_004586.3(RPS6KA3):c.341G>A (p.Arg114Gln) rs2519763145
NM_004586.3(RPS6KA3):c.406+1G>T rs2519762863
NM_004586.3(RPS6KA3):c.407-1G>T rs2519759849
NM_004586.3(RPS6KA3):c.432T>G (p.Tyr144Ter) rs2148701884
NM_004586.3(RPS6KA3):c.443A>T (p.Asp148Val) rs2148701829
NM_004586.3(RPS6KA3):c.451_452del (p.Arg151fs) rs1603426295
NM_004586.3(RPS6KA3):c.486+3A>G rs1603426293
NM_004586.3(RPS6KA3):c.512A>G (p.Lys171Arg) rs2148700476
NM_004586.3(RPS6KA3):c.566T>A (p.Ile189Lys) rs122454130
NM_004586.3(RPS6KA3):c.578A>G (p.Asp193Gly)
NM_004586.3(RPS6KA3):c.594T>G (p.Asn198Lys)
NM_004586.3(RPS6KA3):c.602T>C (p.Leu201Pro) rs2519735957
NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile) rs1325953089
NM_004586.3(RPS6KA3):c.632-1G>C rs398124177
NM_004586.3(RPS6KA3):c.632-2A>C rs2148686736
NM_004586.3(RPS6KA3):c.637G>T (p.Gly213Cys)
NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu) rs1555939456
NM_004586.3(RPS6KA3):c.679T>G (p.Ser227Ala) rs122454125
NM_004586.3(RPS6KA3):c.697G>T (p.Glu233Ter) rs2519732291
NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn) rs1603425338
NM_004586.3(RPS6KA3):c.764G>A (p.Gly255Asp) rs1555939335
NM_004586.3(RPS6KA3):c.774+1G>C rs1555939331
NM_004586.3(RPS6KA3):c.775-1del
NM_004586.3(RPS6KA3):c.803T>C (p.Phe268Ser) rs122454131
NM_004586.3(RPS6KA3):c.813del (p.Asp272fs)
NM_004586.3(RPS6KA3):c.829del (p.Thr276_Met277insTer)
NM_004586.3(RPS6KA3):c.889_890del (p.Leu298fs) rs2519686958
NM_004586.3(RPS6KA3):c.894_902del (p.Arg300_Leu302del) rs1555933769
NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter) rs869320705
NM_004586.3(RPS6KA3):c.932T>G (p.Leu311Ter) rs1603422403
NM_004586.3(RPS6KA3):c.967A>G (p.Arg323Gly)
RPS6KA3, 187-BP DEL, NT406

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.