ClinVar Miner

List of variants studied for Mucopolysaccharidosis type 7 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 48
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HGVS dbSNP
NM_000181.3(GUSB):c.-50C>T rs201504866
NM_000181.3(GUSB):c.-72G>T rs2279904
NM_000181.4(GUSB):c.*12A>G
NM_000181.4(GUSB):c.*148A>G
NM_000181.4(GUSB):c.*154G>A
NM_000181.4(GUSB):c.*172A>G
NM_000181.4(GUSB):c.*208T>C rs190201470
NM_000181.4(GUSB):c.*208T>G
NM_000181.4(GUSB):c.*55C>T rs372605666
NM_000181.4(GUSB):c.*94A>G
NM_000181.4(GUSB):c.-10A>T
NM_000181.4(GUSB):c.-12G>A rs2279903
NM_000181.4(GUSB):c.-19G>C rs771999951
NM_000181.4(GUSB):c.-20C>T rs577269089
NM_000181.4(GUSB):c.1050G>A (p.Lys350=)
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185
NM_000181.4(GUSB):c.1193G>A (p.Arg398His) rs776843811
NM_000181.4(GUSB):c.11G>C (p.Gly4Ala)
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)
NM_000181.4(GUSB):c.1240C>T (p.Leu414=) rs150686327
NM_000181.4(GUSB):c.1245-15C>T rs62470935
NM_000181.4(GUSB):c.1245-4G>A
NM_000181.4(GUSB):c.1245-4G>T
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro) rs190496263
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr) rs1302470051
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=)
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
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.1790-18dup rs750022485
NM_000181.4(GUSB):c.1912T>C (p.Ser638Pro)
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530
NM_000181.4(GUSB):c.210+11G>C rs886062403
NM_000181.4(GUSB):c.211-8C>G rs2293340
NM_000181.4(GUSB):c.216C>T (p.Gly72=) rs77774169
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611
NM_000181.4(GUSB):c.324G>A (p.Pro108=)
NM_000181.4(GUSB):c.347G>A (p.Arg116His)
NM_000181.4(GUSB):c.352A>G (p.Arg118Gly)
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000181.4(GUSB):c.45G>A (p.Leu15=) rs886062404
NM_000181.4(GUSB):c.531C>A (p.Thr177=)
NM_000181.4(GUSB):c.532C>A (p.Pro178Thr)
NM_000181.4(GUSB):c.561A>G (p.Gln187=) rs74430256
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser)
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652

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