ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 13 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala) rs761427653 0.00001
NM_006734.4(HIVEP2):c.1610C>T (p.Ser537Phe) rs1248488995 0.00001
NM_001376.5(DYNC1H1):c.10117T>C (p.Ser3373Pro) rs2152591676
NM_001376.5(DYNC1H1):c.10550C>T (p.Ala3517Val) rs1165122605
NM_001376.5(DYNC1H1):c.195G>T (p.Met65Ile) rs577413889
NM_001376.5(DYNC1H1):c.4067C>T (p.Pro1356Leu) rs2503727356
NM_001376.5(DYNC1H1):c.6703C>T (p.Arg2235Cys) rs2048263659
NM_001376.5(DYNC1H1):c.7474C>T (p.Arg2492Ter) rs2048322542
NM_001376.5(DYNC1H1):c.8324A>G (p.Glu2775Gly) rs2152583834
NM_001376.5(DYNC1H1):c.9286G>A (p.Asp3096Asn) rs2503805793

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