ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001358263.1(HK1):c.75+20082A>G rs187500777 0.00198
NM_000188.3(HK1):c.1433A>G (p.His478Arg) rs144282713 0.00021
NM_001358263.1(HK1):c.28-3329G>A rs192516988 0.00015
NM_000188.3(HK1):c.97G>A (p.Asp33Asn) rs375425117 0.00004
NM_000188.3(HK1):c.1549C>T (p.Arg517Trp) rs568551856 0.00003
NM_000188.3(HK1):c.949G>A (p.Gly317Ser) rs202028638 0.00002
NM_000188.3(HK1):c.1220G>A (p.Arg407Gln) rs777108601 0.00001
NM_000188.3(HK1):c.1690A>G (p.Ile564Val)
NM_000188.3(HK1):c.2314A>T (p.Ile772Phe) rs1840074295
NM_000188.3(HK1):c.2662G>A (p.Val888Met) rs1564575554
NM_000188.3(HK1):c.495+12C>T rs557994641
NM_000188.3(HK1):c.589G>C (p.Gly197Arg)
NM_000188.3(HK1):c.86T>C (p.Met29Thr) rs1014528063

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