ClinVar Miner

List of variants reported as pathogenic for canthal anomaly by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001371623.1(TCOF1):c.1330_1340del (p.Lys444fs)
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110

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