ClinVar Miner

List of variants in gene NEK1 reported as pathogenic for Jeune syndrome

Included ClinVar conditions (45):
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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001199397.3(NEK1):c.481C>T (p.Arg161Ter) rs202115635 0.00006
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter) rs985064686 0.00004
NM_001199397.3(NEK1):c.379C>T (p.Arg127Ter) rs387906890 0.00003
NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter) rs371575563 0.00002
NM_001199397.3(NEK1):c.214+1G>A rs1049502301 0.00002
NM_001199397.3(NEK1):c.1129C>T (p.Gln377Ter) rs1482234746 0.00001
NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter) rs758677637 0.00001
NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter) rs773156346 0.00001
NM_001199397.3(NEK1):c.2991_2992insG (p.Ser998fs) rs763310804 0.00001
NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg) rs1301705612 0.00001
NM_001199397.3(NEK1):c.869-1G>T rs794727032 0.00001
NM_001199397.3(NEK1):c.1097_1098del (p.Arg366fs)
NM_001199397.3(NEK1):c.1177C>T (p.Gln393Ter)
NM_001199397.3(NEK1):c.1198del (p.Arg400fs)
NM_001199397.3(NEK1):c.1395G>A (p.Trp465Ter)
NM_001199397.3(NEK1):c.1583_1584dup (p.Glu529Ter) rs1758763118
NM_001199397.3(NEK1):c.1606G>T (p.Glu536Ter)
NM_001199397.3(NEK1):c.1640dup (p.Asn547fs) rs483352907
NM_001199397.3(NEK1):c.1690_1691del (p.Met564fs) rs786205645
NM_001199397.3(NEK1):c.1769_1770del (p.Arg590fs) rs1554053289
NM_001199397.3(NEK1):c.1868del (p.Ser623fs) rs1362848762
NM_001199397.3(NEK1):c.1945_1951del (p.Lys648_Glu649insTer)
NM_001199397.3(NEK1):c.1984dup (p.Glu662fs) rs2149690411
NM_001199397.3(NEK1):c.2010_2011del (p.Leu670fs)
NM_001199397.3(NEK1):c.2089C>T (p.Gln697Ter) rs2149558070
NM_001199397.3(NEK1):c.213del (p.Glu72fs) rs2150139071
NM_001199397.3(NEK1):c.2190del (p.Asn731fs) rs746591648
NM_001199397.3(NEK1):c.2282_2283dup (p.Asp762fs)
NM_001199397.3(NEK1):c.2650_2651insCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTACAATGTA (p.Cys883_Ile884insThrCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysValGlnCys)
NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs) rs752878896
NM_001199397.3(NEK1):c.2886-1G>A rs773496891
NM_001199397.3(NEK1):c.2972_2973del (p.Ile991fs) rs2111354717
NM_001199397.3(NEK1):c.3191C>G (p.Ser1064Ter) rs2111335168
NM_001199397.3(NEK1):c.3337G>T (p.Glu1113Ter) rs1732670701
NM_001199397.3(NEK1):c.3581C>A (p.Ser1194Ter)
NM_001199397.3(NEK1):c.3726del (p.Asp1243fs)
NM_001199397.3(NEK1):c.3830A>C (p.Asp1277Ala) rs1157065841
NM_001199397.3(NEK1):c.433G>A (p.Gly145Arg) rs431905508
NM_001199397.3(NEK1):c.514C>T (p.Pro172Ser) rs1554075506
NM_001199397.3(NEK1):c.599_602del (p.Lys200fs) rs1554075284
NM_001199397.3(NEK1):c.602del (p.His201fs) rs2150079083
NM_001199397.3(NEK1):c.869-2A>G rs483352906
NM_001199397.3(NEK1):c.934del (p.Ala312fs) rs2150034070
NM_001199397.3(NEK1):c.984del (p.Lys328fs) rs1432921892
NM_001199397.3(NEK1):c.[1226G>A];[1948del]

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