ClinVar Miner

List of variants in gene AGXT reported as likely benign for Primary hyperoxaluria, type I

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Total variants: 39
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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.166-14C>T rs180177176 0.00486
NM_000030.3(AGXT):c.*19G>A rs143458283 0.00409
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773 0.00234
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134 0.00233
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882 0.00231
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_000030.3(AGXT):c.573C>T (p.Thr191=) rs146483092 0.00108
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu) rs144007007 0.00095
NM_000030.3(AGXT):c.805C>T (p.Leu269=) rs151131723 0.00070
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817 0.00043
NM_000030.3(AGXT):c.424-4T>C rs369523966 0.00036
NM_000030.3(AGXT):c.777-17C>A rs112319664 0.00036
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) rs74205173 0.00022
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535 0.00019
NM_000030.3(AGXT):c.596-7T>C rs368799073 0.00012
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123 0.00011
NM_000030.3(AGXT):c.885G>A (p.Ala295=) rs377132245 0.00011
NM_000030.3(AGXT):c.942+12C>G rs202001799 0.00009
NM_000030.3(AGXT):c.1002C>T (p.Asp334=) rs370897272 0.00006
NM_000030.3(AGXT):c.762C>T (p.Asp254=) rs375038017 0.00006
NM_000030.3(AGXT):c.888G>A (p.Ala296=) rs979513298 0.00006
NM_000030.3(AGXT):c.1170G>A (p.Lys390=) rs899277137 0.00005
NM_000030.3(AGXT):c.27C>A (p.Thr9=) rs180177188 0.00003
NM_000030.3(AGXT):c.423+12G>A rs574091775 0.00003
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser) rs180177260 0.00003
NM_000030.3(AGXT):c.942+14T>G rs886055843 0.00002
NM_000030.3(AGXT):c.1174C>T (p.Leu392=) rs180177167 0.00001
NM_000030.3(AGXT):c.375G>C (p.Pro125=) rs754716643 0.00001
NM_000030.3(AGXT):c.450G>A (p.Leu150=) rs752385061 0.00001
NM_000030.3(AGXT):c.596-10C>T rs890462970 0.00001
NM_000030.3(AGXT):c.660C>T (p.Ile220=) rs780078312 0.00001
NM_000030.3(AGXT):c.981C>T (p.Pro327=) rs760409952 0.00001
NM_000030.3(AGXT):c.-24C>G rs192950967
NM_000030.3(AGXT):c.27C>G (p.Thr9=) rs180177188
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.483C>G (p.Gly161=) rs757583201
NM_000030.3(AGXT):c.840G>A (p.Ala280=) rs143295006

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