ClinVar Miner

List of variants studied for canthal anomaly by St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_001354689.3(RAF1):c.1168+9_1168+21del rs727504451
NM_001354689.3(RAF1):c.176G>A (p.Arg59His) rs1559447623
NM_001354689.3(RAF1):c.226A>G (p.Met76Val) rs730880999
NM_001354689.3(RAF1):c.31A>T (p.Ile11Phe) rs779001930
NM_001374258.1(BRAF):c.83GCGCCG[1] (p.28GA[1]) rs397507458
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002834.4(PTPN11):c.15-4del rs1223869705
NM_002834.4(PTPN11):c.940T>C (p.Phe314Leu) rs968167995
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206
NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.3(SOS1):c.2371C>A (p.Leu791Ile) rs142004123
NM_005633.3(SOS1):c.280A>G (p.Ile94Val) rs144757941
NM_005633.3(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127
NM_005633.3(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734
NM_005633.3(SOS1):c.571G>A (p.Glu191Lys) rs886041241
NM_007373.3(SHOC2):c.1741A>G (p.Met581Val) rs1470655019
NM_030662.3(MAP2K2):c.46C>A (p.Pro16Thr) rs904859028
NM_030662.3(MAP2K2):c.523A>G (p.Ile175Val) rs373325880
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln) rs151133017
NM_033360.4(KRAS):c.*101_*106del rs1339924833

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