ClinVar Miner

List of variants reported as likely pathogenic for canthal anomaly by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_001163817.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001163817.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001354689.3(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_001360.2(DHCR7):c.1190C>T (p.Ser397Leu) rs773134475
NM_001360.2(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.2(DHCR7):c.3G>A (p.Met1Ile) rs121909767
NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.3(DHCR7):c.501G>A (p.Trp167Ter)
NM_001360.3(DHCR7):c.98+2_98+6del
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005343.4(HRAS):c.183G>T (p.Gln61His) rs121913496
NM_005633.3(SOS1):c.2197A>T (p.Ile733Phe) rs574088829

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