ClinVar Miner

List of variants in gene AGXT reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 14
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HGVS dbSNP
NM_000030.2(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.2(AGXT):c.1111G>A (p.Glu371Lys) rs369664123
NM_000030.2(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.2(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.2(AGXT):c.352C>T (p.Arg118Cys) rs376844297
NM_000030.2(AGXT):c.454T>A (p.Phe152Ile) rs121908524
NM_000030.2(AGXT):c.524+6C>A rs770992934
NM_000030.2(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.2(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.2(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.2(AGXT):c.65A>G (p.Asn22Ser) rs34885252
NM_000030.2(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.2(AGXT):c.866G>A (p.Arg289His) rs61729604
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529

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