ClinVar Miner

List of variants in gene SETD5 reported as pathogenic for Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_001080517.3(SETD5):c.1028dup (p.Gly344fs) rs2125194140
NM_001080517.3(SETD5):c.1082G>C (p.Arg361Pro) rs2125212022
NM_001080517.3(SETD5):c.1125dup (p.Val376fs) rs1135401767
NM_001080517.3(SETD5):c.1195A>T (p.Lys399Ter) rs587777325
NM_001080517.3(SETD5):c.1333C>T (p.Arg445Ter) rs886039432
NM_001080517.3(SETD5):c.1390C>T (p.Gln464Ter) rs2041797086
NM_001080517.3(SETD5):c.1416dup (p.Val473fs)
NM_001080517.3(SETD5):c.1441-1G>A rs2041850171
NM_001080517.3(SETD5):c.1459G>T (p.Glu487Ter) rs369459846
NM_001080517.3(SETD5):c.1495del (p.Asp499fs) rs2041856807
NM_001080517.3(SETD5):c.1498C>T (p.Gln500Ter) rs1559427364
NM_001080517.3(SETD5):c.1566del (p.Phe522fs) rs1575466399
NM_001080517.3(SETD5):c.1573_1574del (p.Leu525fs) rs2042109833
NM_001080517.3(SETD5):c.1612C>T (p.Gln538Ter) rs1299627284
NM_001080517.3(SETD5):c.1626del (p.Asp542fs)
NM_001080517.3(SETD5):c.1689del (p.Glu564fs) rs2125273254
NM_001080517.3(SETD5):c.1702_1703insT (p.Ser568fs) rs2042123799
NM_001080517.3(SETD5):c.1741_1742del (p.Gln581fs) rs1131691711
NM_001080517.3(SETD5):c.1744_1745del (p.Ser582fs) rs2042128326
NM_001080517.3(SETD5):c.1783-1G>C rs1553625691
NM_001080517.3(SETD5):c.1852C>T (p.Arg618Ter) rs1218918142
NM_001080517.3(SETD5):c.1893_1894insA (p.Arg632fs) rs1553625836
NM_001080517.3(SETD5):c.1967T>G (p.Leu656Ter) rs768750924
NM_001080517.3(SETD5):c.1967del (p.Ser655_Leu656insTer) rs2125280753
NM_001080517.3(SETD5):c.2003C>G (p.Ser668Ter)
NM_001080517.3(SETD5):c.2154del (p.Val719fs) rs1575475764
NM_001080517.3(SETD5):c.2168T>A (p.Leu723Ter)
NM_001080517.3(SETD5):c.2177_2178del (p.Thr726fs) rs587777326
NM_001080517.3(SETD5):c.2279C>A (p.Ser760Ter) rs1553626575
NM_001080517.3(SETD5):c.2302C>T (p.Arg768Ter) rs864321657
NM_001080517.3(SETD5):c.2347-7A>G rs886041593
NM_001080517.3(SETD5):c.2386dup (p.Thr796fs) rs2042902664
NM_001080517.3(SETD5):c.2388_2389del (p.Ser797fs) rs1559451052
NM_001080517.3(SETD5):c.2438dup (p.Asn814fs)
NM_001080517.3(SETD5):c.2508dup (p.Arg837fs) rs1553635477
NM_001080517.3(SETD5):c.2521G>T (p.Glu841Ter) rs2125500010
NM_001080517.3(SETD5):c.2734C>T (p.Arg912Ter) rs2045177486
NM_001080517.3(SETD5):c.2998dup (p.Tyr1000fs)
NM_001080517.3(SETD5):c.3001C>T (p.Arg1001Ter)
NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter) rs2045524028
NM_001080517.3(SETD5):c.345dup (p.Lys116fs) rs2040365404
NM_001080517.3(SETD5):c.3512C>G (p.Ser1171Ter)
NM_001080517.3(SETD5):c.3556C>T (p.Arg1186Ter)
NM_001080517.3(SETD5):c.3771dup (p.Ser1258fs) rs587777328
NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs) rs1553641476
NM_001080517.3(SETD5):c.3856del (p.Ser1286fs) rs587777329
NM_001080517.3(SETD5):c.3858_3859del (p.His1287fs) rs2045779618
NM_001080517.3(SETD5):c.387del (p.Gly130fs)
NM_001080517.3(SETD5):c.489dup (p.Val164fs) rs2125111250
NM_001080517.3(SETD5):c.547_567+60del rs1553618323
NM_001080517.3(SETD5):c.588_591del (p.Gln196fs)
NM_001080517.3(SETD5):c.868_872del (p.Arg290fs)
NM_001080517.3(SETD5):c.889_890del (p.Leu297fs) rs2125187619
NM_001080517.3(SETD5):c.890_897delinsC (p.Leu297fs) rs2125187678
NM_001080517.3(SETD5):c.960-5C>G rs2125193661
NM_001080517.3(SETD5):c.960del (p.Lys320fs) rs2041316219

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