ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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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 rs786200926
NM_001360.2(DHCR7):c.670G>A (p.Glu224Lys) rs373121544
NM_001360.2(DHCR7):c.719A>G (p.Asn240Ser) rs148609143
NM_001360.2(DHCR7):c.907G>T (p.Gly303Trp) rs142808899
NM_001360.2(DHCR7):c.988G>A (p.Val330Met) rs139724817
NM_001360.3(DHCR7):c.1031G>A (p.Gly344Asp)
NM_001360.3(DHCR7):c.1084C>G (p.Arg362Gly)
NM_001360.3(DHCR7):c.1364A>T (p.Tyr455Phe)
NM_001360.3(DHCR7):c.418G>A (p.Val140Met)
NM_001360.3(DHCR7):c.44T>C (p.Leu15Pro)
NM_001360.3(DHCR7):c.766G>T (p.Ala256Ser)
NM_001360.3(DHCR7):c.939G>C (p.Trp313Cys)

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