ClinVar Miner

List of variants studied for canthal anomaly by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (57):
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ClinVar version:
Total variants: 14
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NM_001145468.3(SPECC1L):c.1292T>C (p.Leu431Pro) rs1556226291
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001374258.1(BRAF):c.1712G>C (p.Trp571Ser) rs397507478
NM_001374258.1(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
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.1655G>A (p.Arg552Lys) rs397517154
NM_015330.6(SPECC1L):c.2999A>T (p.Asp1000Val) rs1601294872
NM_023067.4(FOXL2):c.700_701insAGCGGCTGCAGCAGCTGCGGCTGCAGCCGC (p.Ala234delinsGluArgLeuGlnGlnLeuArgLeuGlnProPro) rs1553752849

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