ClinVar Miner

List of variants studied for X-linked intellectual disability-cerebellar hypoplasia syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002547.3(OPHN1):c.1526+1G>A rs2147429591
NM_002547.3(OPHN1):c.1579A>G (p.Ile527Val)
NM_002547.3(OPHN1):c.191T>C (p.Leu64Pro) rs2078108310

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