ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 13 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.4501A>C (p.Ile1501Leu) rs368821864 0.00001
NM_001376.5(DYNC1H1):c.11906C>A (p.Thr3969Asn) rs770525695
NM_001376.5(DYNC1H1):c.19G>T (p.Gly7Cys) rs769682126
NM_001376.5(DYNC1H1):c.2288C>T (p.Ala763Val) rs1358924141
NM_001376.5(DYNC1H1):c.2900A>G (p.Gln967Arg) rs2047998539
NM_001376.5(DYNC1H1):c.2973G>A (p.Met991Ile) rs2503708386
NM_001376.5(DYNC1H1):c.3183G>C (p.Trp1061Cys) rs2503714657
NM_001376.5(DYNC1H1):c.6514del (p.Arg2172fs) rs2503753722

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