ClinVar Miner

List of variants reported as likely pathogenic for Smith-Lemli-Opitz syndrome by Fulgent Genetics,Fulgent Genetics

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Total variants: 3
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HGVS dbSNP
NM_001360.2(DHCR7):c.1327C>T (p.Arg443Cys) rs535561852
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
NM_001360.2(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095

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