ClinVar Miner

List of variants in gene AGXT studied for Primary hyperoxaluria

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Total variants: 36
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HGVS dbSNP
NM_000030.2(AGXT):c.-46G>A rs73106672
NM_000030.3(AGXT):c.*160G>A rs776483024
NM_000030.3(AGXT):c.*162A>G rs886055844
NM_000030.3(AGXT):c.*19G>A rs143458283
NM_000030.3(AGXT):c.*289A>C rs4344931
NM_000030.3(AGXT):c.*41C>A rs4273214
NM_000030.3(AGXT):c.-14G>A rs376396832
NM_000030.3(AGXT):c.-23G>A rs116057889
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.1071+12C>T rs375775541
NM_000030.3(AGXT):c.1071+13G>A rs758413374
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) rs569643246
NM_000030.3(AGXT):c.165+12G>C rs201989825
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.358+13C>T rs34995778
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524
NM_000030.3(AGXT):c.484G>A (p.Val162Met) rs147497484
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.524+3G>A rs886055839
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773
NM_000030.3(AGXT):c.817_818AG[5] (p.Ser275fs) rs180177273
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000030.3(AGXT):c.901C>T (p.Arg301Cys) rs886055841
NM_000030.3(AGXT):c.930C>T (p.Phe310=) rs886055842
NM_000030.3(AGXT):c.942+14T>G rs886055843

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