ClinVar Miner

List of variants reported as likely 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_001360.2(DHCR7):c.1134C>T (p.Ile378=) rs773505265
NM_001360.2(DHCR7):c.1365C>T (p.Tyr455=) rs557097410
NM_001360.2(DHCR7):c.1368C>T (p.Gly456=) rs144562471
NM_001360.2(DHCR7):c.1410G>A (p.Leu470=) rs375993195
NM_001360.2(DHCR7):c.15G>A (p.Ser5=) rs147038941
NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
NM_001360.2(DHCR7):c.522C>T (p.Phe174=) rs140648594
NM_001360.2(DHCR7):c.906C>T (p.Phe302=) rs80338858

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