ClinVar Miner

List of variants reported as pathogenic for canthal anomaly by Blueprint Genetics

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_001354689.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_001354689.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_005633.3(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.4(SOS1):c.1655G>C rs397517154
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048

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