ClinVar Miner

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

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ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000181.4(GUSB):c.*172A>G
NM_000181.4(GUSB):c.*55C>T rs372605666
NM_000181.4(GUSB):c.-12G>A rs2279903
NM_000181.4(GUSB):c.162C>T (p.Asn54=) rs74975849
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530
NM_000181.4(GUSB):c.216C>T (p.Gly72=) rs77774169
NM_000181.4(GUSB):c.561A>G (p.Gln187=) rs74430256
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979

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