ClinVar Miner

List of variants reported as likely benign for canthal anomaly by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
NM_001360.3(DHCR7):c.606C>T (p.Phe202=) rs1591111340
NM_002834.4(PTPN11):c.933+25T>C rs727505386
NM_002834.5(PTPN11):c.1620C>T (p.His540=) rs587781132
NM_005633.3(SOS1):c.2511-13_2511-9del rs727503436
NM_005633.3(SOS1):c.3391+7A>G rs201982464
NM_005633.3(SOS1):c.396A>T (p.Ala132=) rs727505385
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839

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