ClinVar Miner

List of variants studied for inflammatory bowel disease by Klein lab, Ludwig-Maximilians-University

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met) rs116040763 0.00011
NM_001354930.2(RIPK1):c.1844T>C (p.Ile615Thr) rs752183065 0.00001
NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg) rs1336387628
NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys) rs1555755308
NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys) rs1555755242
NM_001354930.2(RIPK1):c.1278C>A (p.Tyr426Ter) rs374657927
NM_001354930.2(RIPK1):c.1802G>A (p.Cys601Tyr) rs1561780980
NM_001354930.2(RIPK1):c.954del (p.Met318fs) rs1561772403

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