ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_012203.2(GRHPR):c.288-11C>T rs2736664 0.92549
NM_012203.2(GRHPR):c.494-68A>G rs309459 0.86126
NM_012203.2(GRHPR):c.579A>G (p.Ala193=) rs309458 0.85807
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 0.32606
NM_000030.3(AGXT):c.*41C>A rs4273214 0.30802
NM_000030.3(AGXT):c.943-117C>T rs10199038 0.30790
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752 0.29673
NM_000030.3(AGXT):c.524+91C>T rs10196315 0.29513
NM_138413.4(HOGA1):c.212-21A>G rs11817730 0.19877
NM_138413.4(HOGA1):c.700+67G>A rs2297643 0.16278
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 0.14826
NM_138413.4(HOGA1):c.469-25C>T rs7078003 0.14530
NM_012203.2(GRHPR):c.579= (p.Ala193=) rs309458 0.14193
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047 0.12652
NM_138413.4(HOGA1):c.469-31C>T rs75929214 0.09102
NM_012203.2(GRHPR):c.734+9G>A rs56401536 0.04769
NM_138413.4(HOGA1):c.396G>A (p.Ala132=) rs41290456 0.02716
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252 0.02454
NM_138413.4(HOGA1):c.834+42G>T rs115279832 0.01504
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912 0.01476
NM_000030.3(AGXT):c.681-94G>A rs141154272 0.01343
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) rs76299266 0.01042
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_000030.3(AGXT):c.166-14C>T rs180177176 0.00486
NM_012203.2(GRHPR):c.493+27C>T rs146896070 0.00432
NM_000030.3(AGXT):c.*19G>A rs143458283 0.00409
NM_000030.3(AGXT):c.976G>A (p.Val326Ile) rs115057148 0.00394
NM_000030.3(AGXT):c.424-16G>A rs74895925 0.00239
NM_000030.3(AGXT):c.680+75G>A rs117619103 0.00233
NM_000030.3(AGXT):c.423+45T>G rs117357855 0.00232
NM_000030.3(AGXT):c.423+29C>T rs117043148 0.00230
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177 0.00171
NM_012203.2(GRHPR):c.598+145G>T rs72739643 0.00108
NM_000030.3(AGXT):c.166-56C>T rs114401766 0.00090
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys) rs151185188 0.00051
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_138413.4(HOGA1):c.701-18G>C rs201596675 0.00034
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_138413.4(HOGA1):c.745C>G (p.Gln249Glu) rs368276974 0.00004
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.296C>A (p.Ser99Tyr) rs180177192 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)
NM_000030.3(AGXT):c.265G>A (p.Ala89Thr)
NM_000030.3(AGXT):c.285G>T (p.Glu95Asp)
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)
NM_000030.3(AGXT):c.536T>C (p.Leu179Pro)
NM_000030.3(AGXT):c.799A>T (p.Ile267Phe)
NM_000030.3(AGXT):c.80G>A (p.Gly27Glu)
NM_000030.3(AGXT):c.827T>A (p.Leu276Gln)
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
NM_012203.1(GRHPR):c.866-25CT[9] rs34302950
NM_012203.2(GRHPR):c.211G>A (p.Ala71Thr)
NM_012203.2(GRHPR):c.215-11C>T rs796052076
NM_012203.2(GRHPR):c.638T>C (p.Val213Ala)
NM_012203.2(GRHPR):c.83+52del rs35891798
NM_012203.2(GRHPR):c.961C>G (p.Pro321Ala)
NM_138413.4(HOGA1):c.103A>G (p.Ile35Val)
NM_138413.4(HOGA1):c.20G>C (p.Trp7Ser)
NM_138413.4(HOGA1):c.341-82del rs796052083
NM_138413.4(HOGA1):c.41T>A (p.Leu14Gln)
NM_138413.4(HOGA1):c.469-13C>T rs750664684
NM_138413.4(HOGA1):c.661G>C (p.Ala221Pro)

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