ClinVar Miner

List of variants reported as likely benign for Primary hyperoxaluria, type I by Fulgent Genetics, Fulgent Genetics

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Total variants: 20
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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.732C>A (p.Ile244=) rs147106773 0.00234
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.424-4T>C rs369523966 0.00036
NM_000030.3(AGXT):c.777-17C>A rs112319664 0.00036
NM_000030.3(AGXT):c.596-7T>C rs368799073 0.00012
NM_000030.3(AGXT):c.1002C>T (p.Asp334=) rs370897272 0.00006
NM_000030.3(AGXT):c.888G>A (p.Ala296=) rs979513298 0.00006
NM_000030.3(AGXT):c.423+12G>A rs574091775 0.00003
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.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.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

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