ClinVar Miner

List of variants in gene GUSB reported as pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 0.00007
NM_000181.4(GUSB):c.1856C>T (p.Ala619Val) rs121918172 0.00004
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp) rs121918176 0.00003
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter) rs121918185 0.00002
NM_000181.4(GUSB):c.1244+1G>A rs765969571 0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val) rs121918175 0.00001
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173 0.00001
NM_000181.4(GUSB):c.1145G>A (p.Arg382His) rs764018631 0.00001
NM_000181.4(GUSB):c.1337G>A (p.Trp446Ter) rs1434169374 0.00001
NM_000181.4(GUSB):c.163C>T (p.Arg55Ter) rs1210475838 0.00001
NM_000181.4(GUSB):c.1747G>A (p.Gly583Arg) rs757015172 0.00001
NM_000181.4(GUSB):c.1881G>T (p.Trp627Cys) rs121918184 0.00001
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673 0.00001
NM_000181.4(GUSB):c.646C>T (p.Arg216Trp) rs121918174 0.00001
NC_000007.14:g.(?_65967711)_(65970386_?)del
NC_000007.14:g.(?_65970262)_(65970386_?)del
NC_000007.14:g.(?_65974275)_(65982203_?)del
NC_000007.14:g.65974442del
NM_000181.4(GUSB):c.1047del (p.Asn349fs)
NM_000181.4(GUSB):c.1050G>C (p.Lys350Asn) rs121918182
NM_000181.4(GUSB):c.11_12del (p.Gly4fs)
NM_000181.4(GUSB):c.1338G>A (p.Trp446Ter) rs121918180
NM_000181.4(GUSB):c.1391+618_1391+619del rs786200863
NM_000181.4(GUSB):c.1455dup (p.Asn486Ter)
NM_000181.4(GUSB):c.1457_1460del (p.Asn486fs)
NM_000181.4(GUSB):c.1730G>T (p.Arg577Leu) rs121918183
NM_000181.4(GUSB):c.1756dup (p.Ile586fs)
NM_000181.4(GUSB):c.1798dup (p.Arg600fs)
NM_000181.4(GUSB):c.1809dup (p.Asn604fs)
NM_000181.4(GUSB):c.1865T>A (p.Leu622Ter)
NM_000181.4(GUSB):c.1872_1875del (p.Glu624fs)
NM_000181.4(GUSB):c.1872_1875dup (p.Tyr626fs)
NM_000181.4(GUSB):c.1874_1875del (p.Arg625fs) rs935464108
NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter) rs1236992554
NM_000181.4(GUSB):c.190del (p.Tyr64fs)
NM_000181.4(GUSB):c.24del (p.Trp9fs)
NM_000181.4(GUSB):c.320del (p.Leu107fs)
NM_000181.4(GUSB):c.325G>T (p.Glu109Ter)
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter) rs1053785648
NM_000181.4(GUSB):c.434del (p.Gly145fs)
NM_000181.4(GUSB):c.442C>T (p.Pro148Ser) rs121918177
NM_000181.4(GUSB):c.499C>T (p.Arg167Ter)
NM_000181.4(GUSB):c.507dup (p.Ile170fs)
NM_000181.4(GUSB):c.527_530del (p.Leu176fs)
NM_000181.4(GUSB):c.530C>T (p.Thr177Ile) rs587779400
NM_000181.4(GUSB):c.604C>T (p.Gln202Ter)
NM_000181.4(GUSB):c.643C>T (p.Gln215Ter)
NM_000181.4(GUSB):c.738C>G (p.Tyr246Ter)
NM_000181.4(GUSB):c.739C>T (p.Gln247Ter)
NM_000181.4(GUSB):c.74dup (p.Gly26fs)
NM_000181.4(GUSB):c.76_79dup (p.Met27fs)
NM_000181.4(GUSB):c.867_871del (p.Trp289_Tyr291delinsTer)
NM_000181.4(GUSB):c.916C>T (p.Gln306Ter)
NM_000181.4(GUSB):c.91C>T (p.Gln31Ter)
NM_000181.4(GUSB):c.932dup (p.Ser312fs)

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