ClinVar Miner

List of variants studied for Diencephalic-mesencephalic junction dysplasia syndrome 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016580.4(PCDH12):c.152A>G (p.Gln51Arg) rs138473035 0.00025
NM_016580.4(PCDH12):c.922C>T (p.Arg308Ter) rs370283860 0.00002
NM_016580.4(PCDH12):c.2374G>A (p.Gly792Arg)

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