ClinVar Miner

List of variants in gene SETD5 studied for Moyamoya angiopathy with developmental delay

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys)	rs183911558	0.00009
NM_001080517.3(SETD5):c.1015G>T (p.Asp339Tyr)	rs1553621754
NM_001080517.3(SETD5):c.1981del (p.Glu661fs)	rs2042197714

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