ClinVar Miner

List of variants studied for Morquio syndrome by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.*367T>C rs1141390 0.33207
NM_000512.5(GALNS):c.*611A>G rs1135364 0.26293
NM_000512.5(GALNS):c.*36G>A rs11076715 0.23846
NM_000512.5(GALNS):c.*652A>G rs1135366 0.23189
NM_000512.5(GALNS):c.*701C>G rs77936719 0.21621
NM_000485.2(APRT):c.-50C>A rs8191469 0.06915
NM_000485.3(APRT):c.*3A>G rs2070256 0.05786
NM_000512.5(GALNS):c.*524G>C rs3759946 0.04660
NM_000512.5(GALNS):c.*296A>G rs79507351 0.02153
NM_000485.3(APRT):c.97C>T (p.Leu33=) rs8191473 0.01977
NM_000485.3(APRT):c.*47T>C rs8191497 0.01906
NM_000512.5(GALNS):c.*224C>G rs111233947 0.01437
NM_000485.3(APRT):c.90G>T (p.Ser30=) rs8191472 0.01050
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_000512.5(GALNS):c.*236C>T rs189375208 0.00701
NM_000485.3(APRT):c.*182A>G rs8191498 0.00599
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_000485.3(APRT):c.*178A>G rs4695
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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