ClinVar Miner

List of variants in gene HNRNPK reported as pathogenic by Clinical Genetics Research Group, University of Calgary

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002140.4(HNRNPK):c.1009delG rs1554698470
NM_002140.4(HNRNPK):c.1094delG rs1554698213
NM_031263.4(HNRNPK):c.1008+1G>A rs1554698658
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_031263.4(HNRNPK):c.779dup (p.Phe261_Asp262insTer) rs886041807
NM_031263.4(HNRNPK):c.859C>T (p.Arg287Ter) rs1554698878
NM_031263.4(HNRNPK):c.953+1dup rs863223402
NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter) rs1554698681

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