ClinVar Miner

List of variants studied for inflammatory bowel disease by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291 0.06122
NM_001370466.1(NOD2):c.293C>T (p.Pro98Leu) rs149390911 0.00076
NM_003183.6(ADAM17):c.231-14G>A rs370060861 0.00024
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845

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