ClinVar Miner

List of variants in gene NEK1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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NM_001199397.2(NEK1):c.1226G>A (p.Trp409Ter) rs985064686
NM_001199397.2(NEK1):c.1618C>T (p.Arg540Ter) rs758677637
NM_001199397.2(NEK1):c.1640dup (p.Asn547fs) rs483352907
NM_001199397.2(NEK1):c.1690_1691del (p.Met564fs) rs786205645
NM_001199397.2(NEK1):c.1769_1770del (p.Arg590fs) rs1554053289
NM_001199397.2(NEK1):c.1868del (p.Ser623fs) rs1362848762
NM_001199397.2(NEK1):c.214+1G>A rs1049502301
NM_001199397.2(NEK1):c.2810_2813CAAA[1] (p.Asn938fs) rs752878896
NM_001199397.2(NEK1):c.2886-1G>A rs773496891
NM_001199397.2(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197
NM_001199397.2(NEK1):c.379C>T (p.Arg127Ter) rs387906890
NM_001199397.2(NEK1):c.3830A>C (p.Asp1277Ala) rs1157065841
NM_001199397.2(NEK1):c.418G>A (p.Gly140Arg) rs1301705612
NM_001199397.2(NEK1):c.433G>A (p.Gly145Arg) rs431905508
NM_001199397.2(NEK1):c.514C>T (p.Pro172Ser) rs1554075506
NM_001199397.2(NEK1):c.599_602del (p.Lys200fs) rs1554075284
NM_001199397.2(NEK1):c.869-1G>T rs794727032
NM_001199397.2(NEK1):c.869-2A>G rs483352906

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