ClinVar Miner

List of variants reported as uncertain significance for Smith-Lemli-Opitz syndrome by Invitae

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Total variants: 7
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HGVS dbSNP
NM_001360.2(DHCR7):c.122C>T (p.Ala41Val) rs761265690
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001360.2(DHCR7):c.223A>T (p.Ile75Phe) rs370748173
NM_001360.2(DHCR7):c.412+3A>G
NM_001360.2(DHCR7):c.719A>G (p.Asn240Ser) rs148609143
NM_001360.2(DHCR7):c.907G>T (p.Gly303Trp)
NM_001360.2(DHCR7):c.988G>A (p.Val330Met) rs139724817

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