ClinVar Miner

List of variants in gene DHCR7 reported as likely benign for Smith-Lemli-Opitz syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 12
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NM_001360.2(DHCR7):c.*161_*172del rs141483210
NM_001360.2(DHCR7):c.*480C>T rs1790345
NM_001360.2(DHCR7):c.-225C>G rs4944946
NM_001360.2(DHCR7):c.-225C>T rs4944946
NM_001360.2(DHCR7):c.-23T>C rs12573951
NM_001360.2(DHCR7):c.-35C>T rs75974711
NM_001360.2(DHCR7):c.1272C>T (p.Gly424=) rs909217
NM_001360.2(DHCR7):c.189G>A (p.Gln63=) rs1044482
NM_001360.2(DHCR7):c.231C>T (p.Thr77=) rs4316537
NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
NM_001360.2(DHCR7):c.626+15G>A rs736894
NM_001360.3(DHCR7):c.606C>T (p.Phe202=)

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