ClinVar Miner

List of variants studied for Primary hyperoxaluria, type II

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Total variants: 213
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HGVS dbSNP gnomAD frequency
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_012203.2(GRHPR):c.404+153T>C rs2768658 0.60907
NM_012203.2(GRHPR):c.-92C>T rs4878690 0.27923
NM_012203.2(GRHPR):c.579= (p.Ala193=) rs309458 0.14193
NM_012203.2(GRHPR):c.734+9G>A rs56401536 0.04769
NM_012203.2(GRHPR):c.*146A>G rs1057507 0.03576
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_012203.2(GRHPR):c.493+9C>T rs41303225 0.00873
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) rs142356700 0.00474
NM_012203.2(GRHPR):c.493+27C>T rs146896070 0.00432
NM_012203.2(GRHPR):c.512G>A (p.Arg171His) rs200106110 0.00143
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863 0.00130
NM_012203.2(GRHPR):c.598+145G>T rs72739643 0.00108
NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe) rs147185003 0.00088
NM_012203.2(GRHPR):c.234C>T (p.Ile78=) rs143337459 0.00082
NM_012203.2(GRHPR):c.801A>C (p.Gly267=) rs141800325 0.00078
NM_012203.2(GRHPR):c.666C>T (p.Thr222=) rs146227450 0.00038
NM_012203.2(GRHPR):c.*24G>A rs202111075 0.00031
NM_012203.2(GRHPR):c.387C>A (p.Ala129=) rs529454212 0.00028
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr) rs143596402 0.00028
NM_012203.2(GRHPR):c.468C>T (p.Val156=) rs142509393 0.00026
NM_012203.2(GRHPR):c.391G>A (p.Glu131Lys) rs369339903 0.00025
NM_012203.2(GRHPR):c.345A>T (p.Ala115=) rs147053190 0.00024
NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln) rs199560759 0.00024
NM_012203.2(GRHPR):c.844C>T (p.Leu282Phe) rs202120724 0.00024
NM_012203.2(GRHPR):c.381G>A (p.Pro127=) rs151336686 0.00019
NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp) rs142835989 0.00018
NM_012203.2(GRHPR):c.336C>T (p.Ala112=) rs148778319 0.00014
NM_012203.2(GRHPR):c.149C>T (p.Ala50Val) rs150805048 0.00011
NM_012203.2(GRHPR):c.296G>A (p.Arg99Gln) rs146603229 0.00011
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile) rs369950120 0.00011
NM_012203.2(GRHPR):c.543G>C (p.Leu181=) rs370395134 0.00008
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu) rs185747820 0.00008
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter) rs774654020 0.00007
NM_012203.2(GRHPR):c.180C>T (p.Ser60=) rs139689525 0.00007
NM_012203.2(GRHPR):c.846C>G (p.Leu282=) rs146293016 0.00007
NM_012203.2(GRHPR):c.34A>G (p.Thr12Ala) rs761847384 0.00006
NM_012203.2(GRHPR):c.734+1G>A rs148049120 0.00006
NM_012203.2(GRHPR):c.84-4G>A rs778578725 0.00006
NM_012203.2(GRHPR):c.342C>T (p.Leu114=) rs374108537 0.00005
NM_012203.2(GRHPR):c.357A>G (p.Leu119=) rs186922220 0.00005
NM_012203.2(GRHPR):c.255C>T (p.Ile85=) rs372985143 0.00004
NM_012203.2(GRHPR):c.384G>A (p.Glu128=) rs372351685 0.00004
NM_012203.2(GRHPR):c.215-13_215-7del rs780759944 0.00003
NM_012203.2(GRHPR):c.252C>A (p.Gly84=) rs139595138 0.00003
NM_012203.2(GRHPR):c.554G>A (p.Arg185His) rs1327662246 0.00003
NM_012203.2(GRHPR):c.812C>T (p.Thr271Met) rs750954346 0.00003
NM_012203.2(GRHPR):c.905G>A (p.Arg302His) rs180177323 0.00003
NM_012203.2(GRHPR):c.108G>A (p.Ser36=) rs377072887 0.00002
NM_012203.2(GRHPR):c.511C>T (p.Arg171Cys) rs370733771 0.00002
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs) rs180177316 0.00002
NM_012203.2(GRHPR):c.682A>G (p.Lys228Glu) rs74692381 0.00002
NM_012203.2(GRHPR):c.735-1G>A rs180177317 0.00002
NM_012203.2(GRHPR):c.866-2A>G rs200316691 0.00002
NM_012203.2(GRHPR):c.102G>A (p.Trp34Ter) rs180177304 0.00001
NM_012203.2(GRHPR):c.14G>A (p.Arg5Gln) rs760538945 0.00001
NM_012203.2(GRHPR):c.203T>C (p.Leu68Pro) rs180177305 0.00001
NM_012203.2(GRHPR):c.214+1G>T rs1244822375 0.00001
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108 0.00001
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys) rs180177307 0.00001
NM_012203.2(GRHPR):c.404+5G>A rs757796926 0.00001
NM_012203.2(GRHPR):c.454dup (p.Thr152fs) rs771019056 0.00001
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg) rs180177312 0.00001
NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys) rs760782027 0.00001
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314 0.00001
NM_012203.2(GRHPR):c.551G>A (p.Gly184Glu) rs1823271331 0.00001
NM_012203.2(GRHPR):c.578C>T (p.Ala193Val) rs771231175 0.00001
NM_012203.2(GRHPR):c.636C>T (p.Ile212=) rs548848730 0.00001
NM_012203.2(GRHPR):c.735-2del rs1257080057 0.00001
NM_012203.2(GRHPR):c.740A>G (p.Asp247Gly) rs180177318 0.00001
NM_012203.2(GRHPR):c.743T>A (p.Val248Asp) rs796052079 0.00001
NM_012203.2(GRHPR):c.756C>T (p.Asp252=) rs777753552 0.00001
NM_012203.2(GRHPR):c.759C>G (p.Asp253Glu) rs770585067 0.00001
NM_012203.2(GRHPR):c.762G>A (p.Leu254=) rs201872828 0.00001
NM_012203.2(GRHPR):c.771C>T (p.Ala257=) rs367671150 0.00001
NM_012203.2(GRHPR):c.865+1G>T rs771990662 0.00001
NM_012203.2(GRHPR):c.86G>A (p.Cys29Tyr) rs758049256 0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322 0.00001
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter) rs1331106064 0.00001
Multiple alleles
NM_012203.1(GRHPR):c.866-25CT[9] rs34302950
NM_012203.1(GRHPR):c.[84-8_84-5delCCCC;84-13_84-12delCC]
NM_012203.2(GRHPR):c.*132T>C rs1823695311
NM_012203.2(GRHPR):c.-4_-3delinsAT rs796052077
NM_012203.2(GRHPR):c.101G>A (p.Trp34Ter)
NM_012203.2(GRHPR):c.102_112del (p.Trp34_Glu38delinsTer)
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.109_118delinsCAC (p.Asp37fs)
NM_012203.2(GRHPR):c.136G>T (p.Glu46Ter) rs202022170
NM_012203.2(GRHPR):c.154del (p.Ala52fs) rs751101495
NM_012203.2(GRHPR):c.156C>G (p.Ala52=) rs754532633
NM_012203.2(GRHPR):c.170G>A (p.Cys57Tyr)
NM_012203.2(GRHPR):c.175del (p.Leu59fs)
NM_012203.2(GRHPR):c.181G>A (p.Asp61Asn)
NM_012203.2(GRHPR):c.188_189del (p.Val63fs) rs1554746565
NM_012203.2(GRHPR):c.1A>G (p.Met1Val) rs1554746094
NM_012203.2(GRHPR):c.1A>T (p.Met1Leu) rs1554746094
NM_012203.2(GRHPR):c.206_214+11del
NM_012203.2(GRHPR):c.211G>A (p.Ala71Thr)
NM_012203.2(GRHPR):c.214+1G>C rs1244822375
NM_012203.2(GRHPR):c.214+2T>G rs1057517398
NM_012203.2(GRHPR):c.215-11C>T rs796052076
NM_012203.2(GRHPR):c.215-2_215-1del rs1554746793
NM_012203.2(GRHPR):c.228dup (p.Val77fs) rs1057517238
NM_012203.2(GRHPR):c.248_249del (p.Val83fs) rs672601351
NM_012203.2(GRHPR):c.251del (p.Gly84fs)
NM_012203.2(GRHPR):c.258_272del (p.His87_Asp91del)
NM_012203.2(GRHPR):c.265G>C (p.Ala89Pro) rs1588751701
NM_012203.2(GRHPR):c.271del (p.Asp91fs)
NM_012203.2(GRHPR):c.286_287+1del rs750079140
NM_012203.2(GRHPR):c.287+2T>C rs1564297234
NM_012203.2(GRHPR):c.287G>A (p.Arg96His)
NM_012203.2(GRHPR):c.287G>T (p.Arg96Leu) rs796052078
NM_012203.2(GRHPR):c.287_287+4delinsCCC
NM_012203.2(GRHPR):c.288-1G>C
NM_012203.2(GRHPR):c.288-2_288del rs796052081
NM_012203.2(GRHPR):c.2T>G (p.Met1Arg) rs1554746097
NM_012203.2(GRHPR):c.306C>A (p.Tyr102Ter) rs1823086297
NM_012203.2(GRHPR):c.308C>T (p.Thr103Ile) rs761490627
NM_012203.2(GRHPR):c.319dup (p.Leu107fs)
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter) rs180177307
NM_012203.2(GRHPR):c.338_351del (p.Glu113fs)
NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)
NM_012203.2(GRHPR):c.348del (p.Ser117fs)
NM_012203.2(GRHPR):c.351_373del (p.Leu118fs)
NM_012203.2(GRHPR):c.375del (p.Leu126fs) rs180177308
NM_012203.2(GRHPR):c.390C>T (p.Ile130=) rs752869610
NM_012203.2(GRHPR):c.403_404+1del rs1554747007
NM_012203.2(GRHPR):c.404+3_404+6del rs180177309
NM_012203.2(GRHPR):c.404del (p.Asn135fs) rs1057516299
NM_012203.2(GRHPR):c.405-1G>A rs779208888
NM_012203.2(GRHPR):c.412T>C (p.Trp138Arg)
NM_012203.2(GRHPR):c.435_436del (p.Trp145fs) rs1057517333
NM_012203.2(GRHPR):c.441_442del (p.Cys147fs) rs1057517026
NM_012203.2(GRHPR):c.456_464del (p.Gln153_Thr155del) rs1243273371
NM_012203.2(GRHPR):c.457C>T (p.Gln153Ter) rs1341484544
NM_012203.2(GRHPR):c.45del (p.Ala17fs) rs180177311
NM_012203.2(GRHPR):c.493+2T>A rs180177313
NM_012203.2(GRHPR):c.494-2A>G
NM_012203.2(GRHPR):c.496C>T (p.Gln166Ter)
NM_012203.2(GRHPR):c.496del (p.Gln166fs) rs1554747871
NM_012203.2(GRHPR):c.499_500insAGAGT (p.Ala167fs)
NM_012203.2(GRHPR):c.501del (p.Ile168fs)
NM_012203.2(GRHPR):c.515del (p.Leu172fs) rs1057516990
NM_012203.2(GRHPR):c.532del (p.Gln178fs)
NM_012203.2(GRHPR):c.536_537del (p.Arg179fs)
NM_012203.2(GRHPR):c.540del (p.Leu181fs) rs180177315
NM_012203.2(GRHPR):c.586del (p.Gln196fs)
NM_012203.2(GRHPR):c.589del (p.Ala197fs) rs1564300408
NM_012203.2(GRHPR):c.593_594del (p.Glu198fs) rs1588757756
NM_012203.2(GRHPR):c.597del (p.Phe199fs) rs1057516292
NM_012203.2(GRHPR):c.598+1G>T rs111256477
NM_012203.2(GRHPR):c.598+1del rs1554747933
NM_012203.2(GRHPR):c.599-1G>A
NM_012203.2(GRHPR):c.599-1G>C rs1422977131
NM_012203.2(GRHPR):c.601T>C (p.Ser201Pro) rs886063930
NM_012203.2(GRHPR):c.603dup (p.Thr202fs)
NM_012203.2(GRHPR):c.617_671del (p.Ala206fs) rs1564300888
NM_012203.2(GRHPR):c.626C>T (p.Ser209Phe)
NM_012203.2(GRHPR):c.638T>C (p.Val213Ala)
NM_012203.2(GRHPR):c.656C>T (p.Thr219Ile)
NM_012203.2(GRHPR):c.666C>G (p.Thr222=) rs146227450
NM_012203.2(GRHPR):c.675_676del (p.Cys226fs)
NM_012203.2(GRHPR):c.68T>C (p.Leu23Pro)
NM_012203.2(GRHPR):c.694del (p.Gln232fs) rs796052082
NM_012203.2(GRHPR):c.737dup
NM_012203.2(GRHPR):c.755dup (p.Asp252fs) rs1057516823
NM_012203.2(GRHPR):c.761T>C (p.Leu254Pro)
NM_012203.2(GRHPR):c.769dup (p.Ala257fs)
NM_012203.2(GRHPR):c.779dup (p.Ser260fs)
NM_012203.2(GRHPR):c.780dup (p.Gly261fs)
NM_012203.2(GRHPR):c.781_782delinsTAC (p.Gly261fs) rs1554748528
NM_012203.2(GRHPR):c.783del (p.Lys262fs)
NM_012203.2(GRHPR):c.783dup (p.Lys262Ter) rs1554748534
NM_012203.2(GRHPR):c.806A>G (p.Asp269Gly)
NM_012203.2(GRHPR):c.83+1G>A
NM_012203.2(GRHPR):c.83+1G>C rs1822898131
NM_012203.2(GRHPR):c.83+51G>A rs1554746162
NM_012203.2(GRHPR):c.83+51_83+52delinsA rs35891798
NM_012203.2(GRHPR):c.83+52del rs35891798
NM_012203.2(GRHPR):c.84-12_84-5delinsTTT
NM_012203.2(GRHPR):c.84-2A>G rs180177319
NM_012203.2(GRHPR):c.84-8_84-5del rs180177320
NM_012203.2(GRHPR):c.849dup (p.Thr284fs) rs1554748574
NM_012203.2(GRHPR):c.863del (p.Cys288fs) rs1554748598
NM_012203.2(GRHPR):c.865+1del
NM_012203.2(GRHPR):c.865+2T>C
NM_012203.2(GRHPR):c.865+2dup rs1218448371
NM_012203.2(GRHPR):c.866_867del (p.Val289fs) rs180177321
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs) rs1554749639
NM_012203.2(GRHPR):c.871C>T (p.Leu291=) rs1135283
NM_012203.2(GRHPR):c.872T>C (p.Leu291Pro) rs1588768370
NM_012203.2(GRHPR):c.874C>T (p.Pro292Ser) rs1823674233
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr) rs200632069
NM_012203.2(GRHPR):c.890_891dup (p.Thr298fs)
NM_012203.2(GRHPR):c.905G>C (p.Arg302Pro)
NM_012203.2(GRHPR):c.930_931dup (p.Asn311fs)
NM_012203.2(GRHPR):c.932dup (p.Asn311fs)
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp) rs180177324
NM_012203.2(GRHPR):c.935dup (p.Asn312fs) rs1554749668
NM_012203.2(GRHPR):c.94_97dup (p.Gln33fs)
NM_012203.2(GRHPR):c.954_955del (p.Glu320fs) rs1554749672
NM_012203.2(GRHPR):c.954del (p.Glu320fs) rs1057516831
NM_012203.2(GRHPR):c.961C>G (p.Pro321Ala)
NM_012203.2(GRHPR):c.964_965del (p.Met322fs) rs1554749707
NM_012203.2(GRHPR):c.965T>C (p.Met322Thr) rs180177325
NM_012203.2(GRHPR):c.965T>G (p.Met322Arg) rs180177325
NM_012203.2(GRHPR):c.986A>G (p.Ter329Trp) rs1554749727
NM_012203.2:c.215_493del

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