ClinVar Miner

List of variants in gene NEK1 reported as likely pathogenic

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Total variants: 38
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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.695G>A (p.Arg232His) rs772747361 0.00006
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter) rs985064686 0.00004
NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile) rs776098853 0.00004
NM_001199397.3(NEK1):c.3140C>T (p.Ser1047Leu) rs377607698 0.00004
NM_001199397.3(NEK1):c.214+1G>A rs1049502301 0.00002
NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp) rs992324423 0.00001
NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter) rs758677637 0.00001
NM_001199397.3(NEK1):c.2588-2A>G rs201769828 0.00001
NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg) rs1301705612 0.00001
NM_001199397.3(NEK1):c.593C>T (p.Thr198Ile) rs1554075300 0.00001
NM_001199397.3(NEK1):c.868+1G>C rs897732893 0.00001
NC_000004.11:g.(?_170482611)_(170483367_?)del
NM_001199397.3(NEK1):c.1020+1G>A
NM_001199397.3(NEK1):c.1161_1162insC (p.Glu388fs)
NM_001199397.3(NEK1):c.117+1G>A rs794727285
NM_001199397.3(NEK1):c.118-1G>A
NM_001199397.3(NEK1):c.1324C>T (p.Gln442Ter)
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001199397.3(NEK1):c.1562+2T>G
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.1833+1G>T
NM_001199397.3(NEK1):c.1868del (p.Ser623fs) rs1362848762
NM_001199397.3(NEK1):c.1992del (p.Val665fs) rs775849720
NM_001199397.3(NEK1):c.2282_2283del (p.Leu760_Ser761insTer) rs750159428
NM_001199397.3(NEK1):c.2343_2344del (p.Ser782fs) rs2149549124
NM_001199397.3(NEK1):c.2539G>T (p.Glu847Ter) rs1744312712
NM_001199397.3(NEK1):c.2640dup (p.Val881fs)
NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs) rs752878896
NM_001199397.3(NEK1):c.2886-1G>A rs773496891
NM_001199397.3(NEK1):c.3391G>C (p.Asp1131His) rs2111032650
NM_001199397.3(NEK1):c.3761_3771del (p.Ile1254fs) rs2111007067
NM_001199397.3(NEK1):c.386T>G (p.Ile129Ser) rs1131690775
NM_001199397.3(NEK1):c.442G>T (p.Gly148Ter)
NM_001199397.3(NEK1):c.599_602del (p.Lys200fs) rs1554075284
NM_001199397.3(NEK1):c.606+1G>C
NM_001199397.3(NEK1):c.893del (p.Asn298fs) rs1765802748

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