ClinVar Miner

List of variants studied for Smith-Lemli-Opitz syndrome by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00072
NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro) rs753960624 0.00001

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