ClinVar Miner

List of variants in gene CEP164 reported as pathogenic for Nephronophthisis 15

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Total variants: 72
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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.3055C>T (p.Gln1019Ter) rs746453731 0.00004
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter) rs149195472 0.00004
NM_014956.5(CEP164):c.1726C>T (p.Arg576Ter) rs145646425 0.00002
NM_014956.5(CEP164):c.2020C>T (p.Arg674Ter) rs963142616 0.00002
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter) rs764893412 0.00002
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter) rs780849567 0.00002
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter) rs765277720 0.00001
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter) rs774951398 0.00001
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp) rs387907310 0.00001
NM_014956.5(CEP164):c.1179_1180delinsCT (p.Lys393_Glu394delinsAsnTer)
NM_014956.5(CEP164):c.1257del (p.Ser420fs)
NM_014956.5(CEP164):c.1264_1265insTGGCTGG (p.His422fs) rs2042674113
NM_014956.5(CEP164):c.1298del (p.Leu433fs)
NM_014956.5(CEP164):c.1321C>T (p.Gln441Ter)
NM_014956.5(CEP164):c.133G>T (p.Glu45Ter)
NM_014956.5(CEP164):c.1444C>T (p.Gln482Ter) rs2136139535
NM_014956.5(CEP164):c.1481dup (p.Pro495fs) rs752518735
NM_014956.5(CEP164):c.1482del (p.Gln496fs)
NM_014956.5(CEP164):c.1501C>T (p.Gln501Ter)
NM_014956.5(CEP164):c.151C>T (p.Arg51Ter)
NM_014956.5(CEP164):c.1534dup (p.Glu512fs)
NM_014956.5(CEP164):c.1573C>T (p.Gln525Ter) rs387907311
NM_014956.5(CEP164):c.1657C>T (p.Gln553Ter)
NM_014956.5(CEP164):c.1819C>T (p.Gln607Ter)
NM_014956.5(CEP164):c.1921G>T (p.Glu641Ter)
NM_014956.5(CEP164):c.1996G>T (p.Glu666Ter) rs2136318333
NM_014956.5(CEP164):c.2044C>T (p.Gln682Ter)
NM_014956.5(CEP164):c.241C>T (p.Gln81Ter)
NM_014956.5(CEP164):c.2481del (p.Tyr828fs)
NM_014956.5(CEP164):c.2535_2536dup (p.Glu846fs)
NM_014956.5(CEP164):c.2608G>T (p.Glu870Ter)
NM_014956.5(CEP164):c.2656G>T (p.Gly886Ter) rs377597884
NM_014956.5(CEP164):c.266dup (p.Asp89fs) rs1565454034
NM_014956.5(CEP164):c.2688_2691del (p.Arg897fs) rs1317765862
NM_014956.5(CEP164):c.2705_2706del (p.Val902fs)
NM_014956.5(CEP164):c.2836G>T (p.Glu946Ter)
NM_014956.5(CEP164):c.2942_2943del (p.Glu981fs) rs2136450623
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter) rs1323529877
NM_014956.5(CEP164):c.2998del (p.Ile1000fs)
NM_014956.5(CEP164):c.3039_3040dup (p.Gln1014fs)
NM_014956.5(CEP164):c.3109C>T (p.Gln1037Ter) rs2136466034
NM_014956.5(CEP164):c.3193del (p.Asp1065fs)
NM_014956.5(CEP164):c.32A>C (p.Gln11Pro) rs387907309
NM_014956.5(CEP164):c.3311_3312del (p.Ser1104fs)
NM_014956.5(CEP164):c.336dup (p.Lys113fs)
NM_014956.5(CEP164):c.347_348insT (p.Lys116fs) rs1565455033
NM_014956.5(CEP164):c.349_352del (p.Glu117fs)
NM_014956.5(CEP164):c.3502-2A>G
NM_014956.5(CEP164):c.3528del (p.Lys1176fs)
NM_014956.5(CEP164):c.3598_3599del (p.Trp1201fs)
NM_014956.5(CEP164):c.3685dup (p.Leu1229fs)
NM_014956.5(CEP164):c.3711_3712del (p.Ser1238fs) rs2047013877
NM_014956.5(CEP164):c.3732G>A (p.Trp1244Ter)
NM_014956.5(CEP164):c.3813del (p.Ser1272fs)
NM_014956.5(CEP164):c.381del (p.Ser129fs)
NM_014956.5(CEP164):c.381dup (p.Lys128fs) rs747914869
NM_014956.5(CEP164):c.3917dup (p.Pro1306_Lys1307insTer)
NM_014956.5(CEP164):c.3966dup (p.Ala1323fs)
NM_014956.5(CEP164):c.4001G>A (p.Trp1334Ter)
NM_014956.5(CEP164):c.4006_4025del (p.Trp1336fs)
NM_014956.5(CEP164):c.4010dup (p.Asp1337fs) rs2136940605
NM_014956.5(CEP164):c.40_41del (p.Leu14fs)
NM_014956.5(CEP164):c.4286+1G>T rs2047400808
NM_014956.5(CEP164):c.4381T>C (p.Ter1461Arg) rs1565649749
NM_014956.5(CEP164):c.591_593delinsCTCCATATATGAGGACAAGACTGCTCTCAGC (p.Leu198fs)
NM_014956.5(CEP164):c.749dup (p.Gly250_Asp251insTer) rs1402460878
NM_014956.5(CEP164):c.784C>T (p.Gln262Ter)
NM_014956.5(CEP164):c.88_89del (p.Ile29_Leu30insTer)
NM_014956.5(CEP164):c.893del (p.Gly298fs)

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