ClinVar Miner

List of variants in gene SETD5 reported as likely benign for SETD5-related disorder

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001080517.3(SETD5):c.2927C>G (p.Ala976Gly) rs138685269 0.00090
NM_001080517.3(SETD5):c.2476+4C>T rs371030587 0.00045
NM_001080517.3(SETD5):c.959+9G>A rs145218854 0.00035
NM_001080517.3(SETD5):c.3116G>A (p.Arg1039His) rs201568605 0.00034
NM_001080517.3(SETD5):c.2006G>C (p.Gly669Ala) rs199595728 0.00033
NM_001080517.3(SETD5):c.2307G>T (p.Arg769Ser) rs200540210 0.00032
NM_001080517.3(SETD5):c.1728C>A (p.Ile576=) rs191615401 0.00022
NM_001080517.3(SETD5):c.1789G>A (p.Ala597Thr) rs371738111 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.3327C>A (p.Asp1109Glu) rs760465647 0.00014
NM_001080517.3(SETD5):c.687A>G (p.Val229=) rs371218876 0.00011
NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys) rs183911558 0.00009
NM_001080517.3(SETD5):c.567+992A>G rs533021669 0.00006
NM_001080517.3(SETD5):c.4065G>A (p.Ser1355=) rs554246026 0.00004
NM_001080517.3(SETD5):c.2908G>A (p.Val970Met) rs766037213 0.00003
NM_001080517.3(SETD5):c.2735G>A (p.Arg912Gln) rs773495612 0.00001
NM_001080517.3(SETD5):c.1525-4C>T
NM_001080517.3(SETD5):c.189T>C (p.Pro63=)
NM_001080517.3(SETD5):c.1910A>G (p.Asn637Ser) rs201561587
NM_001080517.3(SETD5):c.2391A>T (p.Ser797=)
NM_001080517.3(SETD5):c.246G>A (p.Pro82=)
NM_001080517.3(SETD5):c.3260G>A (p.Gly1087Asp)
NM_001080517.3(SETD5):c.3861C>T (p.His1287=)
NM_001080517.3(SETD5):c.3929C>T (p.Ser1310Leu) rs201582360
NM_001080517.3(SETD5):c.4160G>A (p.Arg1387Gln)
NM_001080517.3(SETD5):c.567+934C>T

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