ClinVar Miner

List of variants in gene CEP164 reported as likely pathogenic for Senior-Loken syndrome

Included ClinVar conditions (24):
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Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter) rs140611214 0.00016
NM_014956.5(CEP164):c.1669dup (p.Glu557fs) rs749114363 0.00004
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter) rs562932233 0.00004
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter) rs149195472 0.00004
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter) rs764893412 0.00002
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter) rs765277720 0.00001
NM_014956.5(CEP164):c.1724+1G>A rs1489883516 0.00001
NM_014956.5(CEP164):c.2066+1G>A rs1279037770 0.00001
NM_014956.5(CEP164):c.2493+1G>A rs778819060 0.00001
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter) rs774951398 0.00001
NM_014956.5(CEP164):c.2760+1G>T rs1269878493 0.00001
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp) rs387907310 0.00001
GRCh37/hg19 11q23.3(chr11:117278620-117284002)
NC_000011.9:g.(?_117253375)_(117257939_?)del
NM_014956.5(CEP164):c.1233+1G>A
NM_014956.5(CEP164):c.1234-2A>T
NM_014956.5(CEP164):c.1318-13_1319del
NM_014956.5(CEP164):c.1409+2T>C
NM_014956.5(CEP164):c.1934+1G>A rs951827564
NM_014956.5(CEP164):c.194+2T>C
NM_014956.5(CEP164):c.2283+1G>C
NM_014956.5(CEP164):c.2283+2T>C rs1459158279
NM_014956.5(CEP164):c.2284-1G>A rs1391874809
NM_014956.5(CEP164):c.2361+1G>A
NM_014956.5(CEP164):c.2362-1G>T
NM_014956.5(CEP164):c.2562del (p.Met854fs) rs1565582604
NM_014956.5(CEP164):c.2616+1G>A rs2136378484
NM_014956.5(CEP164):c.276T>G (p.Tyr92Ter) rs373403222
NM_014956.5(CEP164):c.2914-1G>C
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter) rs1323529877
NM_014956.5(CEP164):c.3216+1del
NM_014956.5(CEP164):c.3437del (p.Gln1146fs)
NM_014956.5(CEP164):c.347del (p.Lys116fs) rs751277203
NM_014956.5(CEP164):c.347dup (p.Glu117fs)
NM_014956.5(CEP164):c.3502-2A>G
NM_014956.5(CEP164):c.3609+1G>T
NM_014956.5(CEP164):c.3748+2T>C
NM_014956.5(CEP164):c.3749-2A>G rs1482717760
NM_014956.5(CEP164):c.381dup (p.Lys128fs) rs747914869
NM_014956.5(CEP164):c.4096+1G>C
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs) rs756288878
NM_014956.5(CEP164):c.552+1G>C rs2041038603
NM_014956.5(CEP164):c.553-1G>A rs2041099865
NM_014956.5(CEP164):c.687+1G>A
NM_014956.5(CEP164):c.688-2A>C rs370034077
NM_014956.5(CEP164):c.765+1G>A rs2041251614
NM_014956.5(CEP164):c.766-2A>G rs2135912935

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