ClinVar Miner

List of variants in gene APRT, GALNS studied for Morquio syndrome

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Total variants: 14
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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_000485.3(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_000485.3(APRT):c.*182A>G rs8191498 0.00599
NM_000485.3(APRT):c.*178A>G rs4695

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