ClinVar Miner

List of variants reported as benign for canthal anomaly by Natera, Inc.

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000527.5(LDLR):c.1617C>T (p.Pro539=) rs5929
NM_000527.5(LDLR):c.81C>T (p.Cys27=) rs2228671
NM_001360.2(DHCR7):c.321+34C>A rs76865413
NM_001360.2(DHCR7):c.626+15G>A rs736894
NM_001360.2(DHCR7):c.627-29T>G rs74742701
NM_001360.2(DHCR7):c.987C>T (p.Pro329=) rs145901607
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001360.3(DHCR7):c.-195G>T rs141057811

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