ClinVar Miner

List of variants reported as likely benign for Mucopolysaccharidosis type 7 by Invitae

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Total variants: 29
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HGVS dbSNP
NM_000181.4(GUSB):c.1020G>A (p.Gly340=) rs372851133
NM_000181.4(GUSB):c.1023A>G (p.Lys341=) rs774381911
NM_000181.4(GUSB):c.105G>C (p.Ser35=)
NM_000181.4(GUSB):c.1062G>A (p.Ala354=) rs554759648
NM_000181.4(GUSB):c.1066-5C>T rs376501876
NM_000181.4(GUSB):c.1137C>T (p.Asn379=)
NM_000181.4(GUSB):c.1240C>T (p.Leu414=) rs150686327
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro) rs190496263
NM_000181.4(GUSB):c.1402G>A (p.Ala468Thr) rs752854143
NM_000181.4(GUSB):c.147C>T (p.Ala49=)
NM_000181.4(GUSB):c.1789+9C>T rs545446158
NM_000181.4(GUSB):c.1790-4G>T rs879010457
NM_000181.4(GUSB):c.1857G>A (p.Ala619=)
NM_000181.4(GUSB):c.1929A>G (p.Gln643=)
NM_000181.4(GUSB):c.211-7T>C
NM_000181.4(GUSB):c.211-8C>G rs2293340
NM_000181.4(GUSB):c.447C>T (p.Phe149=)
NM_000181.4(GUSB):c.453C>G (p.Ala151=) rs144397476
NM_000181.4(GUSB):c.456C>T (p.Asp152=)
NM_000181.4(GUSB):c.466C>T (p.Leu156=)
NM_000181.4(GUSB):c.510C>T (p.Ile170=) rs752674900
NM_000181.4(GUSB):c.54C>T (p.Gly18=) rs759514074
NM_000181.4(GUSB):c.552G>A (p.Gly184=)
NM_000181.4(GUSB):c.669A>T (p.Thr223=) rs201178083
NM_000181.4(GUSB):c.684C>A (p.Ile228=) rs375590538
NM_000181.4(GUSB):c.684C>T (p.Ile228=)
NM_000181.4(GUSB):c.807C>T (p.Val269=) rs571704452
NM_000181.4(GUSB):c.933G>A (p.Thr311=)
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652

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