ClinVar Miner

List of variants studied for Smith-Lemli-Opitz syndrome by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.438T>C (p.Asn146=) rs949177 0.90629
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001360.3(DHCR7):c.964-1G>C rs138659167

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