ClinVar Miner

List of variants reported for Meier-Gorlin syndrome 7 by Undiagnosed Diseases Network, NIH

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003504.5(CDC45):c.1416C>T (p.His472=) rs190155337 0.00014
NM_003504.5(CDC45):c.204G>A (p.Gln68=)

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