ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 56 by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004859.4(CLTC):c.4774A>G (p.Met1592Val)	rs143886947	0.00012
NM_004859.4(CLTC):c.118A>G (p.Ile40Val)	rs747158962	0.00001
NM_004859.4(CLTC):c.1196G>A (p.Arg399His)	rs2509378609
NM_004859.4(CLTC):c.1454C>T (p.Pro485Leu)	rs2143548929

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