ClinVar Miner

List of variants in gene NEK1 reported as uncertain significance for connective tissue disorder

Included ClinVar conditions (370):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001199397.3(NEK1):c.2940G>A (p.Ser980=) rs56252746 0.00080
NM_001199397.3(NEK1):c.3583+8A>C rs192372022 0.00026
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala) rs35222922 0.00012
NM_001199397.3(NEK1):c.2474G>T (p.Gly825Val) rs377203539 0.00006
NM_001199397.3(NEK1):c.2977C>G (p.Pro993Ala) rs745888585 0.00004
NM_001199397.3(NEK1):c.426A>G (p.Val142=) rs200769726 0.00003
NM_001199397.3(NEK1):c.2020G>C (p.Gly674Arg) rs773244347 0.00002
NM_001199397.3(NEK1):c.1335T>C (p.His445=) rs776957816 0.00001
NM_001199397.3(NEK1):c.118-10C>T rs1330006018
NM_001199397.3(NEK1):c.1628A>G (p.Glu543Gly) rs2149814328
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys) rs745526568

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