ClinVar Miner

List of variants in gene HK1 reported as benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001358263.1(HK1):c.75+5198G>A rs906221 0.89932
NM_001358263.1(HK1):c.75+5174A>G rs906220 0.89921
NM_000188.3(HK1):c.1443G>A (p.Lys481=) rs748235 0.80224
NM_001358263.1(HK1):c.28-3306C>T rs4746836 0.39788
NM_000188.3(HK1):c.78C>G (p.Leu26=) rs1133189 0.36523
NM_001358263.1(HK1):c.75+5185C>T rs1108272 0.09778
NM_000188.3(HK1):c.2040C>T (p.Thr680=) rs2229387 0.08670
NM_000188.3(HK1):c.2691C>T (p.Ser897=) rs14006 0.05973
NM_000188.3(HK1):c.*6C>T rs13139 0.04711
NM_000188.3(HK1):c.480A>G (p.Gln160=) rs2228284 0.02306
NM_000188.3(HK1):c.1031+6T>C rs57012387 0.01704
NM_000188.3(HK1):c.692-3C>T rs41279656 0.01625
NM_000188.3(HK1):c.1719+19A>G rs5030915 0.01551
NM_000188.3(HK1):c.2613C>T (p.Phe871=) rs34616021 0.01538
NM_000188.3(HK1):c.2538C>T (p.Arg846=) rs10998760 0.01528
NM_000188.3(HK1):c.1266-13C>T rs114482373 0.01273
NM_000188.3(HK1):c.2007G>A (p.Glu669=) rs117797901 0.00468
NM_001358263.1(HK1):c.75+23del rs111682217

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