ClinVar Miner

List of variants reported as uncertain significance for Primary hyperoxaluria, type I by Clinical Biochemistry Laboratory, Health Services Laboratory

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.777-44A>G rs12464426 0.79262
NM_000030.3(AGXT):c.*289A>C rs4344931 0.74589
NM_000030.3(AGXT):c.846+52G>A rs12695032 0.43208
NM_000030.3(AGXT):c.777-45C>T rs12478859 0.30861
NM_000030.3(AGXT):c.*41C>A rs4273214 0.30681
NM_000030.3(AGXT):c.943-117C>T rs10199038 0.30666
NM_000030.3(AGXT):c.524+91C>T rs10196315 0.29415
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882 0.15328
NM_000030.3(AGXT):c.680+17C>T rs11693280 0.14843
NM_000030.3(AGXT):c.358+13C>T rs34995778 0.14441
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047 0.12729
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252 0.02454
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02312
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912 0.01476
NM_000030.3(AGXT):c.681-94G>A rs141154272 0.01343
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.423+45T>G rs117357855 0.00412
NM_000030.3(AGXT):c.680+75G>A rs117619103 0.00411
NM_000030.3(AGXT):c.*19G>A rs143458283 0.00394
NM_000030.3(AGXT):c.976G>A (p.Val326Ile) rs115057148 0.00356
NM_000030.3(AGXT):c.424-16G>A rs74895925 0.00239
NM_000030.3(AGXT):c.423+29C>T rs117043148 0.00230
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00179
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604 0.00129
NM_000030.3(AGXT):c.166-56C>T rs114401766 0.00090
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys) rs151185188 0.00046
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817 0.00043
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290 0.00043
NM_000030.3(AGXT):c.165+40A>C rs57017537 0.00038
NM_000030.3(AGXT):c.165+44T>A rs58120546 0.00033
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535 0.00019
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser) rs376684240 0.00006
NM_000030.3(AGXT):c.27C>A (p.Thr9=) rs180177188 0.00003
NM_000030.3(AGXT):c.1174C>T (p.Leu392=) rs180177167 0.00001
NM_000030.3(AGXT):c.265G>A (p.Ala89Thr) rs369184209 0.00001
NG_008005.1:g.8384_8763AACATGCAGGNGGAGGAGGGTGAGAGTTCGTG[29-32]
NM_000030.3(AGXT):c.1072-91G>A rs180177159
NM_000030.3(AGXT):c.165+16A>G rs66494441
NM_000030.3(AGXT):c.165+19_166-48dup rs180177174
NM_000030.3(AGXT):c.166-47T>C rs180177178
NM_000030.3(AGXT):c.166-54C>T rs180177179
NM_000030.3(AGXT):c.166-57C>T rs180177175
NM_000030.3(AGXT):c.224C>A (p.Thr75Lys) rs2528740059
NM_000030.3(AGXT):c.285G>T (p.Glu95Asp) rs2528740289
NM_000030.3(AGXT):c.296C>A (p.Ser99Tyr) rs180177192
NM_000030.3(AGXT):c.32C>A (p.Pro11His) rs34116584
NM_000030.3(AGXT):c.358+56_358+64del rs180177209
NM_000030.3(AGXT):c.385G>C (p.Asp129His) rs180177212
NM_000030.3(AGXT):c.423+36A>C rs180177216
NM_000030.3(AGXT):c.424-12dup rs398122323
NM_000030.3(AGXT):c.52C>T (p.Leu18Phe) rs2528739011
NM_000030.3(AGXT):c.536T>C (p.Leu179Pro) rs2528749656
NM_000030.3(AGXT):c.799A>T (p.Ile267Phe) rs1246719671
NM_000030.3(AGXT):c.80G>A (p.Gly27Glu) rs765405040
NM_000030.3(AGXT):c.827T>A (p.Leu276Gln) rs2528758397
NM_000030.3(AGXT):c.837T>G (p.Ile279Met) rs180177277
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000030.3(AGXT):c.845A>G (p.Gln282Arg) rs180177280

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