ClinVar Miner

List of variants reported as benign for primary hyperoxaluria

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.846+170C>T rs4675793 0.98913
NM_012203.2(GRHPR):c.404+291T>C rs2768657 0.97430
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_012203.2(GRHPR):c.404+153T>C rs2768658 0.60907
NM_000030.3(AGXT):c.846+52G>A rs12695032 0.43208
NM_138413.4(HOGA1):c.*445A>G rs1812286 0.40584
NM_138413.4(HOGA1):c.*711G>A rs11189295 0.40516
NM_138413.4(HOGA1):c.*498G>A rs2018017 0.40451
NM_138413.4(HOGA1):c.*355C>T rs1977642 0.40312
NM_000030.3(AGXT):c.595+100G>A rs12997245 0.35955
NM_138413.4(HOGA1):c.835-120A>G rs1124116 0.34185
NM_000030.3(AGXT):c.*41C>A rs4273214 0.30802
NM_000030.3(AGXT):c.846+199G>A rs13030904 0.30492
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752 0.29673
NM_000030.3(AGXT):c.524+91C>T rs10196315 0.29513
NM_012203.2(GRHPR):c.-92C>T rs4878690 0.27923
NM_138413.4(HOGA1):c.*313A>C rs933057 0.26438
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.942+127C>T rs111576306 0.15015
NM_000030.3(AGXT):c.680+17C>T rs11693280 0.14843
NM_000030.3(AGXT):c.358+13C>T rs34995778 0.14826
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047 0.12652
NM_000030.3(AGXT):c.847-83G>T rs11894759 0.12217
NM_012203.2(GRHPR):c.734+9G>A rs56401536 0.04769
NM_012203.2(GRHPR):c.*146A>G rs1057507 0.03576
NM_138413.4(HOGA1):c.396G>A (p.Ala132=) rs41290456 0.02716
NM_138413.4(HOGA1):c.-279G>A rs41309988 0.02511
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_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912 0.01476
NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln) rs12002324 0.01219
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) rs76299266 0.01042
NM_138413.4(HOGA1):c.777G>A (p.Thr259=) rs34820265 0.01024
NM_012203.2(GRHPR):c.493+9C>T rs41303225 0.00873
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558 0.00719
NM_138413.4(HOGA1):c.*94C>T rs116711005 0.00688
NM_000030.3(AGXT):c.680+130C>T rs78178548 0.00508
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) rs142356700 0.00474
NM_000030.3(AGXT):c.976G>A (p.Val326Ile) rs115057148 0.00394
NM_138413.4(HOGA1):c.700+7C>T rs57616820 0.00367
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_012203.2(GRHPR):c.512G>A (p.Arg171His) rs200106110 0.00143
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu) rs144007007 0.00095
NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe) rs147185003 0.00088
NM_012203.2(GRHPR):c.801A>C (p.Gly267=) rs141800325 0.00078
NM_000030.3(AGXT):c.165+40A>C rs57017537 0.00038
NM_012203.2(GRHPR):c.387C>A (p.Ala129=) rs529454212 0.00028
NM_012203.2(GRHPR):c.844C>T (p.Leu282Phe) rs202120724 0.00024
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) rs74205173 0.00022
NM_138413.4(HOGA1):c.284G>A (p.Arg95His) rs754634699 0.00009
NM_012203.2(GRHPR):c.34A>G (p.Thr12Ala) rs761847384 0.00006
NM_012203.2(GRHPR):c.357A>G (p.Leu119=) rs186922220 0.00005
NM_000030.3(AGXT):c.537G>C (p.Leu179=) rs565927450 0.00001
NM_012203.2(GRHPR):c.636C>T (p.Ile212=) rs548848730 0.00001
NM_000030.3(AGXT):c.-23G>A rs116057889
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.358+163G>T rs11681134
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_012203.1(GRHPR):c.866-25CT[9] rs34302950
NM_012203.2(GRHPR):c.83+52del rs35891798
NM_012203.2(GRHPR):c.871C>T (p.Leu291=) rs1135283
NM_138413.4(HOGA1):c.*560T>C rs1977641
NM_138413.4(HOGA1):c.*637G>A rs1977640

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