ClinVar Miner

List of variants studied for canthal anomaly by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_001360.2(DHCR7):c.438T>C (p.Asn146=) rs949177
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_004715.4(CTDP1):c.1461G>A (p.Pro487=) rs2126082
NM_004715.4(CTDP1):c.2817T>C (p.Asp939=) rs626169
NM_004715.4(CTDP1):c.978G>A (p.Thr326=) rs599554
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052

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