ClinVar Miner

List of variants in gene combination ADAM17, IAH1 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: 7
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HGVS dbSNP gnomAD frequency
NM_003183.6(ADAM17):c.1305_1306del (p.Met435fs)
NM_003183.6(ADAM17):c.1467_1468del (p.Cys489_Asp490delinsTer) rs2124999155
NM_003183.6(ADAM17):c.1573dup (p.Cys525fs)
NM_003183.6(ADAM17):c.1645del (p.Thr549fs) rs1572897958
NM_003183.6(ADAM17):c.1793dup (p.Asn598fs) rs1662434135
NM_003183.6(ADAM17):c.1951C>T (p.Arg651Ter)
NM_003183.6(ADAM17):c.1975_1993+4del rs1662343008

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