ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis type 7

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ClinVar version:
Total variants: 65
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HGVS dbSNP
NC_000007.13:g.(?_65425884)_(65447170_?)dup
NC_000007.14:g.(?_65960877)_(65982203_?)dup
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.*208T>C rs190201470
NM_000181.4(GUSB):c.*208T>G
NM_000181.4(GUSB):c.*94A>G
NM_000181.4(GUSB):c.-10A>T
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.1065C>T (p.Asp355=)
NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu)
NM_000181.4(GUSB):c.1136A>G (p.Asn379Ser)
NM_000181.4(GUSB):c.1138G>A (p.Ala380Thr)
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.1245-4G>A
NM_000181.4(GUSB):c.1245-4G>T
NM_000181.4(GUSB):c.1291G>A (p.Glu431Lys)
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.1429C>T (p.Arg477Trp) rs774393243
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=)
NM_000181.4(GUSB):c.1506C>A (p.Asn502Lys) rs1159683641
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn)
NM_000181.4(GUSB):c.169C>G (p.Arg57Gly)
NM_000181.4(GUSB):c.170G>T (p.Arg57Leu) rs769252159
NM_000181.4(GUSB):c.1741G>A (p.Val581Met)
NM_000181.4(GUSB):c.1790-18dup rs750022485
NM_000181.4(GUSB):c.1790-2dup
NM_000181.4(GUSB):c.1816A>G (p.Lys606Glu)
NM_000181.4(GUSB):c.1834del (p.Gln612fs) rs1085307069
NM_000181.4(GUSB):c.185A>G (p.Gln62Arg)
NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter)
NM_000181.4(GUSB):c.1887T>G (p.Ile629Met)
NM_000181.4(GUSB):c.1912T>C (p.Ser638Pro)
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup) rs770237165
NM_000181.4(GUSB):c.1942A>C (p.Ser648Arg) rs776024156
NM_000181.4(GUSB):c.210+11G>C rs886062403
NM_000181.4(GUSB):c.211-8C>G rs2293340
NM_000181.4(GUSB):c.22G>T (p.Ala8Ser)
NM_000181.4(GUSB):c.323C>T (p.Pro108Leu)
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.366G>C (p.Arg122Ser) rs1583946993
NM_000181.4(GUSB):c.450G>C (p.Glu150Asp)
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.532C>T (p.Pro178Ser)
NM_000181.4(GUSB):c.536C>T (p.Thr179Ile)
NM_000181.4(GUSB):c.613T>C (p.Tyr205His)
NM_000181.4(GUSB):c.658C>G (p.Leu220Val)
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser)
NM_000181.4(GUSB):c.697G>A (p.Val233Ile) rs202210104
NM_000181.4(GUSB):c.764T>A (p.Leu255Gln)
NM_000181.4(GUSB):c.918G>T (p.Gln306His) rs375828604
NM_000181.4(GUSB):c.980G>T (p.Arg327Leu) rs1583924426
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652

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