ClinVar Miner

List of variants in gene SETD5 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001080517.3(SETD5):c.1546G>A (p.Glu516Lys) rs147867570 0.00011
NM_001080517.3(SETD5):c.2908G>A (p.Val970Met) rs766037213 0.00003
NM_001080517.3(SETD5):c.3919T>C (p.Ser1307Pro) rs768635008 0.00003
NM_001080517.3(SETD5):c.3958T>C (p.Tyr1320His) rs565601251 0.00003
NM_001080517.3(SETD5):c.4159C>T (p.Arg1387Trp) rs560529972 0.00003
NM_001080517.3(SETD5):c.13A>G (p.Ile5Val) rs567415895 0.00002
NM_001080517.3(SETD5):c.3455C>T (p.Ser1152Phe) rs771164384 0.00001
NM_001080517.3(SETD5):c.3773G>A (p.Ser1258Asn) rs367569965 0.00001
NM_001080517.3(SETD5):c.1077+4A>G
NM_001080517.3(SETD5):c.1172A>G (p.Tyr391Cys)
NM_001080517.3(SETD5):c.1539A>C (p.Arg513Ser)
NM_001080517.3(SETD5):c.1595G>T (p.Arg532Leu) rs755413140
NM_001080517.3(SETD5):c.1782+1G>T
NM_001080517.3(SETD5):c.2436_2438dup (p.Asn812_Glu813insAsp) rs1559451495
NM_001080517.3(SETD5):c.2455A>G (p.Ser819Gly) rs2042913890
NM_001080517.3(SETD5):c.2509C>T (p.Arg837Cys)
NM_001080517.3(SETD5):c.2510G>A (p.Arg837His)
NM_001080517.3(SETD5):c.2618C>T (p.Ser873Leu)
NM_001080517.3(SETD5):c.2659C>G (p.Leu887Val)
NM_001080517.3(SETD5):c.2704A>T (p.Asn902Tyr) rs760912618
NM_001080517.3(SETD5):c.2755A>G (p.Lys919Glu) rs2045180503
NM_001080517.3(SETD5):c.2794G>T (p.Asp932Tyr)
NM_001080517.3(SETD5):c.343G>C (p.Gly115Arg) rs2040365808
NM_001080517.3(SETD5):c.3631+5G>A
NM_001080517.3(SETD5):c.3721-1G>A rs1226313778
NM_001080517.3(SETD5):c.3977A>G (p.His1326Arg)
NM_001080517.3(SETD5):c.4247A>G (p.His1416Arg)
NM_001080517.3(SETD5):c.4258G>T (p.Gly1420Trp) rs767182696
NM_001080517.3(SETD5):c.4265T>A (p.Val1422Glu)
NM_001080517.3(SETD5):c.607A>G (p.Thr203Ala)
NM_001080517.3(SETD5):c.762T>G (p.Asn254Lys)
NM_001080517.3(SETD5):c.811-6A>T
NM_001080517.3(SETD5):c.860G>A (p.Arg287Lys)

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