ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_000512.5(GALNS):c.*236C>T rs189375208 0.00701
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371 0.00093
NM_000512.5(GALNS):c.*287T>C rs776880179 0.00014
NM_000404.3(GLB1):c.-73C>T rs530326876 0.00001
NM_000404.4(GLB1):c.1603C>G (p.His535Asp) rs886058341
NM_000404.4(GLB1):c.1735-15TC[7] rs745361874
NM_000512.5(GALNS):c.*123G>C rs886052453
NM_000512.5(GALNS):c.*207G>T rs886052452
NM_000512.5(GALNS):c.400G>A (p.Val134Ile) rs886052457
NM_001039770.3(TMPPE):c.-510T>G rs886058344

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