ClinVar Miner

List of variants in gene GLE1 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001003722.2(GLE1):c.433-10A>G rs386833693 0.00082
NM_001003722.2(GLE1):c.241C>T (p.Gln81Ter) rs772765696 0.00004
NM_001003722.2(GLE1):c.397C>T (p.Arg133Ter) rs374673335 0.00002
NM_001003722.2(GLE1):c.844C>T (p.Arg282Ter) rs755775223 0.00001
NM_001003722.2(GLE1):c.937C>T (p.Arg313Ter) rs1308076031 0.00001
NC_000009.11:g.(?_131265971)_(131305580_?)del
NC_000009.11:g.(?_131267085)_(131267203_?)del
NC_000009.11:g.(?_131267088)_(131285753_?)del
NC_000009.11:g.(?_131267182)_(131283375_?)del
NC_000009.11:g.(?_131284937)_(131296240_?)del
NC_000009.11:g.(?_131287461)_(131289814_?)del
NC_000009.11:g.(?_131295782)_(131296240_?)del
NC_000009.12:g.(?_128515519)_(128533961_?)del
NC_000009.12:g.(?_128522658)_(128527535_?)del
NC_000009.12:g.128525190AG[1]
NM_001003722.2(GLE1):c.1006_1007del (p.Lys336fs)
NM_001003722.2(GLE1):c.1038_1039insTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGAGGCCCAGGTA (p.Val346_Lys347insTrpProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluGluAlaGlnVal)
NM_001003722.2(GLE1):c.1054C>T (p.Gln352Ter)
NM_001003722.2(GLE1):c.1089_1099del (p.Ala365fs)
NM_001003722.2(GLE1):c.1090_1091dup (p.Ala365fs)
NM_001003722.2(GLE1):c.1092dup (p.Ala365fs) rs2132465911
NM_001003722.2(GLE1):c.1120C>T (p.Gln374Ter) rs1847274393
NM_001003722.2(GLE1):c.112G>T (p.Glu38Ter)
NM_001003722.2(GLE1):c.1135del (p.Gln379fs) rs1847324956
NM_001003722.2(GLE1):c.1149_1153del (p.Gln383fs) rs2132472594
NM_001003722.2(GLE1):c.1153dup (p.Ile385fs) rs1847325791
NM_001003722.2(GLE1):c.1166G>A (p.Trp389Ter) rs2132472743
NM_001003722.2(GLE1):c.1170C>G (p.Tyr390Ter) rs2132472757
NM_001003722.2(GLE1):c.118_121del (p.Met40fs)
NM_001003722.2(GLE1):c.1203_1204del (p.Leu402fs) rs1026034826
NM_001003722.2(GLE1):c.1253_1254del (p.Ile418fs)
NM_001003722.2(GLE1):c.1267C>T (p.Gln423Ter)
NM_001003722.2(GLE1):c.1273dup (p.Ala425fs)
NM_001003722.2(GLE1):c.1279dup (p.Thr427fs) rs2132474184
NM_001003722.2(GLE1):c.1297del (p.Ile433fs) rs2132474290
NM_001003722.2(GLE1):c.1308del (p.Ile436fs)
NM_001003722.2(GLE1):c.152G>A (p.Trp51Ter)
NM_001003722.2(GLE1):c.153G>A (p.Trp51Ter) rs2132405090
NM_001003722.2(GLE1):c.157del (p.Val52_Val53insTer)
NM_001003722.2(GLE1):c.199_202del (p.Ser67fs) rs1407708384
NM_001003722.2(GLE1):c.327del (p.Asp110fs) rs2132430052
NM_001003722.2(GLE1):c.357_364del (p.Gln121fs) rs1564145502
NM_001003722.2(GLE1):c.376dup (p.Ile126fs)
NM_001003722.2(GLE1):c.406del (p.Glu136fs)
NM_001003722.2(GLE1):c.449_457del (p.Trp150_Glu153delinsTer)
NM_001003722.2(GLE1):c.450G>A (p.Trp150Ter)
NM_001003722.2(GLE1):c.456_472dup (p.Val158fs)
NM_001003722.2(GLE1):c.523_527del (p.Trp175fs)
NM_001003722.2(GLE1):c.560_561insAGCTGACTCCCTTAGAGCAAAGGATAGACAGCCACCATTACCAAATACCATTTTTGCATGGGGATTGTGCAGCTGGCAGTGTTCCTGCCCCAGCATGGCACCTTANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAATTCCAGGACTT (p.Arg188fs) rs2132455321
NM_001003722.2(GLE1):c.565G>T (p.Glu189Ter)
NM_001003722.2(GLE1):c.575del (p.Glu192fs)
NM_001003722.2(GLE1):c.590_591del (p.Glu197fs) rs2132457005
NM_001003722.2(GLE1):c.629_630del (p.Arg210fs)
NM_001003722.2(GLE1):c.673C>T (p.Gln225Ter)
NM_001003722.2(GLE1):c.683_687del (p.Val228fs) rs2132458311
NM_001003722.2(GLE1):c.694G>T (p.Glu232Ter)
NM_001003722.2(GLE1):c.724C>T (p.Gln242Ter)
NM_001003722.2(GLE1):c.746_747del (p.Tyr249fs)
NM_001003722.2(GLE1):c.751_752dup (p.Gln252fs) rs1847218494
NM_001003722.2(GLE1):c.781C>T (p.Gln261Ter)
NM_001003722.2(GLE1):c.815_835delinsC (p.Leu272fs) rs1847221082
NM_001003722.2(GLE1):c.831dup (p.Ala278fs) rs2132459332
NM_001003722.2(GLE1):c.832del (p.Ala278fs)
NM_001003722.2(GLE1):c.853C>T (p.Gln285Ter)
NM_001003722.2(GLE1):c.911del (p.Thr304fs) rs2132465004
NM_001003722.2(GLE1):c.919_920del (p.Gln308fs) rs1434442292
NM_001003722.2(GLE1):c.96del (p.Glu33fs) rs2132390446
NM_001003722.2(GLE1):c.978del (p.Gln327fs)
NM_001003722.2(GLE1):c.97G>T (p.Glu33Ter)
NM_001003722.2(GLE1):c.990dup (p.Arg331fs) rs2132465337
NM_001003722.2(GLE1):c.999C>A (p.Cys333Ter)

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