ClinVar Miner

List of variants studied for Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_145886.4(PIDD1):c.277C>T (p.Arg93Cys) rs573360451 0.00003
NM_145886.4(PIDD1):c.296-1G>A rs1479635413 0.00001

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