ClinVar Miner

List of variants in gene DEPDC5 reported as pathogenic by Invitae

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Gene type:
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Total variants: 35
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HGVS dbSNP
NC_000022.10:g.(?_32150888)_(32150985_?)del
NC_000022.10:g.(?_32150888)_(32211218_?)del
NC_000022.10:g.(?_32150888)_(32302503_?)del
NC_000022.10:g.(?_32154512)_(32154639_?)del
NC_000022.10:g.(?_32154512)_(32174174_?)del
NC_000022.10:g.(?_32160941)_(32162674_?)del
NC_000022.10:g.(?_32200128)_(32206647_?)del
NC_000022.10:g.(?_32205577)_(32211218_?)del
NM_001242897.2(DEPDC5):c.1018del (p.Val340fs)
NM_001242897.2(DEPDC5):c.1133del (p.Pro378fs) rs1568955379
NM_001242897.2(DEPDC5):c.1224C>A (p.Tyr408Ter)
NM_001242897.2(DEPDC5):c.1385_1386del (p.Ala461_Tyr462insTer) rs1555882921
NM_001242897.2(DEPDC5):c.1453C>T (p.Arg485Ter) rs1568991466
NM_001242897.2(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242897.2(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973
NM_001242897.2(DEPDC5):c.1845del (p.Arg615fs) rs1060501487
NM_001242897.2(DEPDC5):c.2091T>A (p.Tyr697Ter)
NM_001242897.2(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563
NM_001242897.2(DEPDC5):c.2660_2685del (p.His887fs) rs1555900914
NM_001242897.2(DEPDC5):c.3025C>T (p.Arg1009Ter) rs587777458
NM_001242897.2(DEPDC5):c.3247del (p.Ala1083fs) rs1569166925
NM_001242897.2(DEPDC5):c.346C>T (p.Arg116Ter) rs1315483224
NM_001242897.2(DEPDC5):c.3502C>T (p.Arg1168Ter) rs886039268
NM_001242897.2(DEPDC5):c.3568C>T (p.Gln1190Ter) rs1569186093
NM_001242897.2(DEPDC5):c.3694C>T (p.Arg1232Ter) rs886039269
NM_001242897.2(DEPDC5):c.3907C>T (p.Gln1303Ter)
NM_001242897.2(DEPDC5):c.4146dup (p.Val1383fs)
NM_001242897.2(DEPDC5):c.418C>T (p.Gln140Ter) rs786205703
NM_001242897.2(DEPDC5):c.4201C>T (p.Gln1401Ter)
NM_001242897.2(DEPDC5):c.4201_4202dup (p.Gln1401fs) rs1569254004
NM_001242897.2(DEPDC5):c.434G>A (p.Trp145Ter) rs1060501488
NM_001242897.2(DEPDC5):c.784_785GA[2] (p.Arg263fs) rs1569523728
NM_001242897.2(DEPDC5):c.788_792GAAGA[1] (p.Glu265fs)
NM_001242897.2(DEPDC5):c.856C>T (p.Arg286Ter) rs886039255
NM_001242897.2(DEPDC5):c.865C>T (p.Gln289Ter) rs759952667

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