ClinVar Miner

List of variants in gene ADAM17 reported as pathogenic for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NC_000002.11:g.(?_9645275)_(9650280_?)del
NC_000002.11:g.(?_9663358)_(9666393_?)del
NC_000002.12:g.9523337_9523340del
NM_003183.6(ADAM17):c.1015dup (p.Thr339fs)
NM_003183.6(ADAM17):c.1151del (p.Gly383_Leu384insTer)
NM_003183.6(ADAM17):c.603_606del (p.Asp201fs) rs387906866
NM_003183.6(ADAM17):c.619+1del
NM_003183.6(ADAM17):c.987_988dup (p.Ser330fs) rs1000050918

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