ClinVar Miner

List of variants in gene AGXT reported by Mendelics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_000030.3(AGXT):c.107G>A (p.Arg36His) rs180177162 0.00001
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del) rs1553648979

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