ClinVar Miner

List of variants in gene AGXT reported as pathogenic by Counsyl

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Gene type:
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Total variants: 12
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NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.406_410dup (p.Gln137fs) rs1553648488
NM_000030.3(AGXT):c.447_454del (p.Leu151fs) rs180177221
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg) rs121908530
NM_000030.3(AGXT):c.466G>C (p.Gly156Arg) rs121908530
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.525-1G>A rs180177234
NM_000030.3(AGXT):c.596-2A>G rs180177245
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000030.3(AGXT):c.847-3C>G rs180177286

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