ClinVar Miner

List of variants reported as uncertain significance for Hawkinsinuria by Illumina Laboratory Services, Illumina

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002150.3(HPD):c.*191C>T rs886049036 0.00038
NM_002150.3(HPD):c.*65A>G rs931600760 0.00007
NM_002150.3(HPD):c.914C>T (p.Thr305Met) rs200010805 0.00005
NM_002150.3(HPD):c.915G>A (p.Thr305=) rs751753975 0.00004
NM_002150.3(HPD):c.5C>T (p.Thr2Met) rs774495352 0.00003
NM_002150.2(HPD):c.*202T>A rs1352129485 0.00002
NM_002150.3(HPD):c.1165G>C (p.Val389Leu) rs1404803313 0.00001
NM_002150.3(HPD):c.*190G>T rs942325148
NM_002150.3(HPD):c.*69C>T rs1592913492
NM_002150.3(HPD):c.*82T>C rs879205776
NM_002150.3(HPD):c.1061A>G (p.His354Arg) rs1877351328
NM_002150.3(HPD):c.211C>G (p.Leu71Val) rs886049037
NM_002150.3(HPD):c.518+3G>A rs1877698848
NM_002150.3(HPD):c.92A>G (p.Gln31Arg) rs1878057534

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