ClinVar Miner

List of variants reported for Primary hyperoxaluria, type II by Clinical Biochemistry Laboratory, Health Services Laboratory

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Total variants: 61
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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_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.963G>A (p.Pro321=) rs76299266 0.01042
NM_012203.2(GRHPR):c.493+27C>T rs146896070 0.00432
NM_012203.2(GRHPR):c.598+145G>T rs72739643 0.00108
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile) rs369950120 0.00011
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter) rs774654020 0.00007
NM_012203.2(GRHPR):c.905G>A (p.Arg302His) rs180177323 0.00003
NM_012203.2(GRHPR):c.608_609del (p.Pro203fs) rs180177316 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.203T>C (p.Leu68Pro) rs180177305 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.478G>A (p.Gly160Arg) rs180177312 0.00001
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314 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.904C>T (p.Arg302Cys) rs180177322 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.-4_-3delinsAT rs796052077
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012203.2(GRHPR):c.181G>A (p.Asp61Asn)
NM_012203.2(GRHPR):c.211G>A (p.Ala71Thr)
NM_012203.2(GRHPR):c.215-11C>T rs796052076
NM_012203.2(GRHPR):c.248_249del (p.Val83fs) rs672601351
NM_012203.2(GRHPR):c.258_272del (p.His87_Asp91del)
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.288-1G>C
NM_012203.2(GRHPR):c.288-2_288del rs796052081
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.404+3_404+6del rs180177309
NM_012203.2(GRHPR):c.412T>C (p.Trp138Arg)
NM_012203.2(GRHPR):c.45del (p.Ala17fs) rs180177311
NM_012203.2(GRHPR):c.493+2T>A rs180177313
NM_012203.2(GRHPR):c.536_537del (p.Arg179fs)
NM_012203.2(GRHPR):c.540del (p.Leu181fs) rs180177315
NM_012203.2(GRHPR):c.638T>C (p.Val213Ala)
NM_012203.2(GRHPR):c.68T>C (p.Leu23Pro)
NM_012203.2(GRHPR):c.694del (p.Gln232fs) rs796052082
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.866_867del (p.Val289fs) rs180177321
NM_012203.2(GRHPR):c.871C>T (p.Leu291=) rs1135283
NM_012203.2(GRHPR):c.932dup (p.Asn311fs)
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp) rs180177324
NM_012203.2(GRHPR):c.961C>G (p.Pro321Ala)
NM_012203.2(GRHPR):c.965T>C (p.Met322Thr) rs180177325
NM_012203.2(GRHPR):c.965T>G (p.Met322Arg) rs180177325

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