ClinVar Miner

List of variants reported as likely pathogenic for Smith-Lemli-Opitz syndrome by Integrated Genetics/Laboratory Corporation of America

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Total variants: 3
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HGVS dbSNP
NM_001360.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001360.2(DHCR7):c.651C>A (p.Tyr217Ter) rs749076525
NM_001360.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114

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