ClinVar Miner

List of variants in gene NEK1 studied for amyotrophic lateral sclerosis, susceptibility to, 24

Included ClinVar conditions (2):
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001199397.3(NEK1):c.3222+64T>A rs72691050 0.00296
NM_001199397.3(NEK1):c.782G>A (p.Arg261His) rs200161705 0.00216
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=) rs184324310 0.00098
NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu) rs372585344 0.00019
NM_001199397.3(NEK1):c.1925C>G (p.Ala642Gly) rs529024280 0.00017
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter) rs371575563 0.00002
NM_001199397.3(NEK1):c.2361G>A (p.Lys787=) rs886042457 0.00002
NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter) rs773156346 0.00001
NM_001199397.3(NEK1):c.2434A>T (p.Arg812Ter) rs749428135 0.00001
NM_001199397.3(NEK1):c.2588-2A>G rs201769828 0.00001
NM_001199397.3(NEK1):c.1324C>T (p.Gln442Ter)
NM_001199397.3(NEK1):c.1804C>T (p.Gln602Ter)
NM_001199397.3(NEK1):c.2282_2283del (p.Leu760_Ser761insTer) rs750159428
NM_001199397.3(NEK1):c.2400G>C (p.Glu800Asp) rs753381599
NM_001199397.3(NEK1):c.2539G>T (p.Glu847Ter) rs1744312712
NM_001199397.3(NEK1):c.3838T>C (p.Tyr1280His) rs2111006014

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