ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001080517.3(SETD5):c.4115C>T (p.Thr1372Ile) rs62246321 0.00247
NM_001080517.3(SETD5):c.2347-14C>T rs200975171 0.00104
NM_001080517.3(SETD5):c.2927C>G (p.Ala976Gly) rs138685269 0.00090
NM_001080517.3(SETD5):c.3891G>A (p.Thr1297=) rs199989217 0.00072
NM_001080517.3(SETD5):c.609T>G (p.Thr203=) rs201728851 0.00063
NM_001080517.3(SETD5):c.1794A>G (p.Ala598=) rs376761696 0.00061
NM_001080517.3(SETD5):c.2476+4C>T rs371030587 0.00045
NM_001080517.3(SETD5):c.2006G>C (p.Gly669Ala) rs199595728 0.00033
NM_001080517.3(SETD5):c.2876C>T (p.Pro959Leu) rs776223960 0.00028
NM_001080517.3(SETD5):c.2348G>A (p.Arg783His) rs201499833 0.00021
NM_001080517.3(SETD5):c.213G>A (p.Pro71=) rs371515878 0.00017
NM_001080517.3(SETD5):c.3341G>A (p.Gly1114Asp) rs201189533 0.00016
NM_001080517.3(SETD5):c.1546G>A (p.Glu516Lys) rs147867570 0.00011
NM_001080517.3(SETD5):c.4140G>A (p.Ser1380=) rs374462952 0.00009
NM_001080517.3(SETD5):c.909G>A (p.Gly303=) rs757146140 0.00004
NM_001080517.3(SETD5):c.123C>A (p.Ser41=) rs548352059 0.00003
NM_001080517.3(SETD5):c.2908G>A (p.Val970Met) rs766037213 0.00003
NM_001080517.3(SETD5):c.2932C>T (p.Arg978Trp) rs532266433 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.627G>A (p.Arg209=) rs767899702 0.00003
NM_001080517.3(SETD5):c.13A>G (p.Ile5Val) rs567415895 0.00002
NM_001080517.3(SETD5):c.1710T>C (p.Ser570=) rs769555032 0.00002
NM_001080517.3(SETD5):c.693C>T (p.Asn231=) rs754366536 0.00002
NM_001080517.3(SETD5):c.2019A>G (p.Pro673=) rs373778653 0.00001
NM_001080517.3(SETD5):c.2601G>T (p.Gln867His) rs371224058 0.00001
NM_001080517.3(SETD5):c.3276C>T (p.Ser1092=) rs748076124 0.00001
NM_001080517.3(SETD5):c.3455C>T (p.Ser1152Phe) rs771164384 0.00001
NM_001080517.3(SETD5):c.3600A>G (p.Thr1200=) rs376334779 0.00001
NM_001080517.3(SETD5):c.3773G>A (p.Ser1258Asn) rs367569965 0.00001
NM_001080517.3(SETD5):c.3819T>C (p.Ser1273=) rs777309500 0.00001
NM_001080517.3(SETD5):c.1077+1G>T rs2041380175
NM_001080517.3(SETD5):c.1077+4A>G
NM_001080517.3(SETD5):c.1172A>G (p.Tyr391Cys)
NM_001080517.3(SETD5):c.1278_1287del (p.Pro427fs) rs1575449107
NM_001080517.3(SETD5):c.1314_1315del (p.Glu438fs)
NM_001080517.3(SETD5):c.1539A>C (p.Arg513Ser)
NM_001080517.3(SETD5):c.1595G>T (p.Arg532Leu) rs755413140
NM_001080517.3(SETD5):c.1734C>T (p.Ser578=)
NM_001080517.3(SETD5):c.1782+1G>T
NM_001080517.3(SETD5):c.1899_1902del (p.Gln633fs) rs2042190198
NM_001080517.3(SETD5):c.1904A>G (p.Gln635Arg) rs2042190375
NM_001080517.3(SETD5):c.1910A>G (p.Asn637Ser) rs201561587
NM_001080517.3(SETD5):c.191G>C (p.Arg64Pro) rs368353953
NM_001080517.3(SETD5):c.1959dup (p.Asn654Ter) rs2125280717
NM_001080517.3(SETD5):c.1967T>G (p.Leu656Ter) rs768750924
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.2644C>T (p.Arg882Ter) rs1553635637
NM_001080517.3(SETD5):c.2659C>G (p.Leu887Val)
NM_001080517.3(SETD5):c.2704A>T (p.Asn902Tyr) rs760912618
NM_001080517.3(SETD5):c.2724+45C>T
NM_001080517.3(SETD5):c.2755A>G (p.Lys919Glu) rs2045180503
NM_001080517.3(SETD5):c.2794G>T (p.Asp932Tyr)
NM_001080517.3(SETD5):c.2907C>T (p.Leu969=)
NM_001080517.3(SETD5):c.3001C>T (p.Arg1001Ter)
NM_001080517.3(SETD5):c.3318C>T (p.Ser1106=) rs375375084
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.3858_3859del (p.His1287fs) rs2045779618
NM_001080517.3(SETD5):c.3862G>A (p.Gly1288Ser) rs755607090
NM_001080517.3(SETD5):c.3929C>T (p.Ser1310Leu) rs201582360
NM_001080517.3(SETD5):c.3977A>G (p.His1326Arg)
NM_001080517.3(SETD5):c.4083T>C (p.Val1361=)
NM_001080517.3(SETD5):c.4122dup (p.Pro1375fs) rs2125632199
NM_001080517.3(SETD5):c.4179T>C (p.Ser1393=)
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.819G>C (p.Leu273=)
NM_001080517.3(SETD5):c.860G>A (p.Arg287Lys)
NM_001080517.3(SETD5):c.875del (p.Leu292fs) rs2041310524
NM_001080517.3(SETD5):c.87G>A (p.Glu29=)

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