ClinVar Miner

List of variants in gene SETD5 reported by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001080517.3(SETD5):c.3824G>A (p.Arg1275Gln) rs1283153458 0.00001
NM_001080517.3(SETD5):c.1042C>T (p.Arg348Trp) rs1553621798
NM_001080517.3(SETD5):c.757A>G (p.Ile253Val)
NM_001080517.3(SETD5):c.998_1010del (p.Gly333fs)

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