ClinVar Miner

List of variants reported as pathogenic for Coffin-Lowry syndrome

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(20185970_20187287)_(20191368_20193188)del
NC_000023.10:g.(?_17393881)_(20284750_?)del
NC_000023.10:g.(?_20173516)_(20174387_?)del
NC_000023.10:g.(?_20204394)_(20206108_?)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.1052_1056delinsTGAG (p.Pro351fs)
NM_004586.3(RPS6KA3):c.1152del (p.Phe385fs) rs2148662359
NM_004586.3(RPS6KA3):c.1428_1430del (p.Ile477del) rs1603420690
NM_004586.3(RPS6KA3):c.1444_1959dup (p.Val482_Lys653dup)
NM_004586.3(RPS6KA3):c.1540C>T (p.Arg514Ter)
NM_004586.3(RPS6KA3):c.1566_1567insTG (p.Ile523Ter)
NM_004586.3(RPS6KA3):c.1602+2dup
NM_004586.3(RPS6KA3):c.1615_1616del (p.Asp539fs)
NM_004586.3(RPS6KA3):c.1686dup (p.Gly563fs)
NM_004586.3(RPS6KA3):c.1740C>A (p.Tyr580Ter)
NM_004586.3(RPS6KA3):c.1765-2A>C rs2067343280
NM_004586.3(RPS6KA3):c.1814G>A (p.Gly605Asp)
NM_004586.3(RPS6KA3):c.1845del (p.Gly614_Tyr615insTer) rs1569190602
NM_004586.3(RPS6KA3):c.1894C>T (p.Arg632Ter) rs1085307639
NM_004586.3(RPS6KA3):c.1959+2dup rs1057518853
NM_004586.3(RPS6KA3):c.1996C>T (p.Gln666Ter) rs1603417440
NM_004586.3(RPS6KA3):c.2005_2008del (p.Thr669fs)
NM_004586.3(RPS6KA3):c.2065C>T (p.Gln689Ter) rs122454128
NM_004586.3(RPS6KA3):c.2093dup (p.Val699fs)
NM_004586.3(RPS6KA3):c.2101-2A>G
NM_004586.3(RPS6KA3):c.2142_2145dup (p.Pro716fs) rs2148622591
NM_004586.3(RPS6KA3):c.2144del (p.Ser715fs) rs1603417213
NM_004586.3(RPS6KA3):c.2162_2168del (p.Val721fs)
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.224G>T (p.Gly75Val) rs122454124
NM_004586.3(RPS6KA3):c.243+1G>A rs1603428228
NM_004586.3(RPS6KA3):c.244-1G>A
NM_004586.3(RPS6KA3):c.244G>T (p.Val82Phe) rs122454126
NM_004586.3(RPS6KA3):c.251del (p.Phe83_Leu84insTer) rs2148721944
NM_004586.3(RPS6KA3):c.283C>T (p.Gln95Ter)
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.407-1G>T
NM_004586.3(RPS6KA3):c.432T>G (p.Tyr144Ter) rs2148701884
NM_004586.3(RPS6KA3):c.451_452del (p.Arg151fs) rs1603426295
NM_004586.3(RPS6KA3):c.486+3A>G rs1603426293
NM_004586.3(RPS6KA3):c.566T>A (p.Ile189Lys) rs122454130
NM_004586.3(RPS6KA3):c.593+2_593+5del rs1555942692
NM_004586.3(RPS6KA3):c.602T>C (p.Leu201Pro)
NM_004586.3(RPS6KA3):c.632-1G>C rs398124177
NM_004586.3(RPS6KA3):c.632-2A>C rs2148686736
NM_004586.3(RPS6KA3):c.679T>G (p.Ser227Ala) rs122454125
NM_004586.3(RPS6KA3):c.697G>T (p.Glu233Ter)
NM_004586.3(RPS6KA3):c.709C>T (p.Pro237Ser)
NM_004586.3(RPS6KA3):c.727C>T (p.Arg243Ter) rs1603425345
NM_004586.3(RPS6KA3):c.740dup (p.Ser248fs) rs2148686409
NM_004586.3(RPS6KA3):c.755G>A (p.Trp252Ter)
NM_004586.3(RPS6KA3):c.770_773del (p.Leu257fs) rs2148686334
NM_004586.3(RPS6KA3):c.803T>C (p.Phe268Ser) rs122454131
NM_004586.3(RPS6KA3):c.829del (p.Thr276_Met277insTer)
NM_004586.3(RPS6KA3):c.845+5G>A
NM_004586.3(RPS6KA3):c.889_890del (p.Leu298fs)
NM_004586.3(RPS6KA3):c.898C>T (p.Arg300Ter) rs1603422409
NM_004586.3(RPS6KA3):c.909_910insT (p.Lys304Ter)
NM_004586.3(RPS6KA3):c.913C>T (p.Arg305Ter)
NM_004586.3(RPS6KA3):c.932T>G (p.Leu311Ter) rs1603422403
NM_004586.3(RPS6KA3):c.955G>T (p.Glu319Ter)
RPS6KA3, 187-BP DEL, NT406

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