ClinVar Miner

List of variants reported as benign for Mucopolysaccharidosis type 7

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000181.4(GUSB):c.1065+27C>G rs781143 0.52153
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530 0.50676
NM_000181.4(GUSB):c.1653+151A>G rs1880555 0.49681
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361 0.10447
NM_000181.4(GUSB):c.*172A>G rs77293332 0.02406
NM_000181.4(GUSB):c.-12G>A rs2279903 0.01784
NM_000181.4(GUSB):c.162C>T (p.Asn54=) rs74975849 0.00909
NM_000181.4(GUSB):c.561A>G (p.Gln187=) rs74430256 0.00755
NM_000181.4(GUSB):c.725-16C>T rs62470936 0.00494
NM_000181.4(GUSB):c.1245-15C>T rs62470935 0.00464
NM_000181.4(GUSB):c.216C>T (p.Gly72=) rs77774169 0.00351
NM_000181.4(GUSB):c.1752G>A (p.Glu584=) rs141430018 0.00250
NM_000181.4(GUSB):c.1359G>A (p.Ala453=) rs118066970 0.00208
NM_000181.4(GUSB):c.1041T>C (p.Gly347=) rs141303888 0.00197
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611 0.00185
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=) rs200831987 0.00052
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224 0.00016
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979 0.00006
NM_000181.4(GUSB):c.633C>T (p.Tyr211=) rs140278510 0.00003
NM_000181.4(GUSB):c.*55C>T rs372605666 0.00001
NM_000181.4(GUSB):c.1476+13del rs2115900599
NM_000181.4(GUSB):c.1476+13dup
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000181.4(GUSB):c.1790-5del rs750022485
NM_000181.4(GUSB):c.397-20dup rs765594686
NM_000181.4(GUSB):c.724+23TC[3] rs3830444

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