ClinVar Miner

List of variants studied for colitis

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn) rs138790505 0.00029
NM_003177.7(SYK):c.1057G>A (p.Ala353Thr) rs200167353 0.00004
NM_001110556.2(FLNA):c.7463C>A (p.Thr2488Asn) rs909387820 0.00001
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
NM_015695.3(BRPF3):c.1978C>T (p.Leu660Phe)

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