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:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_001360.2(DHCR7):c.*161_*172delCTGTTCCTTGCT 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.1012G>A (p.Val338Met) rs72954276
NM_001360.2(DHCR7):c.1272C>T (p.Gly424=) rs909217
NM_001360.2(DHCR7):c.159C>T (p.Ile53=) rs752952700
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_001360.2(DHCR7):c.927C>A (p.Gly309=) rs149974099

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