ClinVar Miner

List of variants reported as pathogenic for Neurodevelopmental disorder with seizures and speech and walking impairment 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_001930.4(DHPS):c.1014+1G>A	rs142633494	0.00028
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser)	rs758100382	0.00006

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