ClinVar Miner

List of variants reported as likely benign for Mucopolysaccharidosis type 7 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000181.3(GUSB):c.-72G>T rs2279904 0.03621
NM_000181.4(GUSB):c.1245-15C>T rs62470935 0.00464
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611 0.00185
NM_000181.3(GUSB):c.-50C>T rs201504866 0.00019
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224 0.00016
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426

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