ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001163817.2(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001163817.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_001163817.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001360.2(DHCR7):c.1222T>C (p.Tyr408His) rs1046560765
NM_001360.2(DHCR7):c.326T>C (p.Leu109Pro) rs121912195
NM_001360.2(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817
NM_001360.2(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782
NM_001360.2(DHCR7):c.995del (p.Leu332fs) rs1057516618
NM_001360.3(DHCR7):c.1112G>A (p.Trp371Ter)
NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr)
NM_001360.3(DHCR7):c.1290C>G (p.Tyr430Ter)
NM_001360.3(DHCR7):c.1342_1344delinsC (p.Glu448fs)
NM_001360.3(DHCR7):c.321G>C (p.Gln107His)

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