ClinVar Miner

List of variants in gene AGXT reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180 0.00006
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) rs569643246 0.00001
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166 0.00001
NM_000030.3(AGXT):c.165+1G>T
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.662_664del (p.Ser221del) rs796052071

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