ClinVar Miner

List of variants studied for colitis by Aleixo Muise Laboratory, Hospital For Sick Children

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003177.7(SYK):c.1057G>A (p.Ala353Thr) rs200167353 0.00004
NM_003177.7(SYK):c.1350G>A (p.Met450Ile) rs1304839707 0.00001
NM_003177.7(SYK):c.1024C>A (p.Pro342Thr) rs1827861920
NM_003177.7(SYK):c.1649C>A (p.Ser550Tyr) rs1828636794
NM_003177.7(SYK):c.1649C>T (p.Ser550Phe) rs1828636794

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