ClinVar Miner

List of variants in gene SP110 reported as pathogenic for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_080424.4(SP110):c.1362dup (p.Asp455Ter) rs754452211 0.00003
NM_080424.4(SP110):c.1342C>T (p.Arg448Ter) rs199844454 0.00002
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter) rs1011767398 0.00001
NC_000002.11:g.(?_231033820)_(231086456_?)del
NC_000002.11:g.(?_231033840)_(231081642_?)del
NC_000002.11:g.(?_231042234)_(231042416_?)del
NC_000002.12:g.(?_230176645)_(230177700_?)del
NM_080424.4(SP110):c.1261C>T (p.Arg421Ter) rs927135298
NM_080424.4(SP110):c.1395dup (p.Val466fs) rs1560530550
NM_080424.4(SP110):c.1428_1429del (p.Tyr476_Lys477delinsTer) rs751020218
NM_080424.4(SP110):c.1631dup (p.Gln545fs) rs2078486744
NM_080424.4(SP110):c.1691del (p.Pro564fs) rs1245290762
NM_080424.4(SP110):c.1775_1778del (p.Val591_Ser592insTer) rs2106348318
NM_080424.4(SP110):c.1933del (p.Leu645fs) rs2106343198

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