ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 34
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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.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.2932C>T (p.Arg978Trp) rs532266433 0.00003
NM_001080517.3(SETD5):c.627G>A (p.Arg209=) rs767899702 0.00003
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.3819T>C (p.Ser1273=) rs777309500 0.00001
NM_001080517.3(SETD5):c.1734C>T (p.Ser578=)
NM_001080517.3(SETD5):c.1910A>G (p.Asn637Ser) rs201561587
NM_001080517.3(SETD5):c.2724+45C>T
NM_001080517.3(SETD5):c.2907C>T (p.Leu969=)
NM_001080517.3(SETD5):c.3318C>T (p.Ser1106=) rs375375084
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.4083T>C (p.Val1361=)
NM_001080517.3(SETD5):c.4179T>C (p.Ser1393=)
NM_001080517.3(SETD5):c.819G>C (p.Leu273=)
NM_001080517.3(SETD5):c.87G>A (p.Glu29=)

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