ClinVar Miner

List of variants in gene GRHPR reported as pathogenic for primary hyperoxaluria

Included ClinVar conditions (4):
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_012203.2(GRHPR):c.139C>T (p.Arg47Ter) rs774654020 0.00007
NM_012203.2(GRHPR):c.734+1G>A rs148049120 0.00006
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.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.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.494G>A (p.Gly165Asp) rs180177314 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.[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.109_118delinsCAC (p.Asp37fs)
NM_012203.2(GRHPR):c.1A>G (p.Met1Val) rs1554746094
NM_012203.2(GRHPR):c.214+1G>A
NM_012203.2(GRHPR):c.248_249del (p.Val83fs) rs672601351
NM_012203.2(GRHPR):c.271del (p.Asp91fs)
NM_012203.2(GRHPR):c.287G>T (p.Arg96Leu) rs796052078
NM_012203.2(GRHPR):c.287_287+4delinsCCC
NM_012203.2(GRHPR):c.288-2_288del rs796052081
NM_012203.2(GRHPR):c.337G>T (p.Glu113Ter) rs180177307
NM_012203.2(GRHPR):c.375del (p.Leu126fs) rs180177308
NM_012203.2(GRHPR):c.404+3_404+6del rs180177309
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.501del (p.Ile168fs)
NM_012203.2(GRHPR):c.540del (p.Leu181fs) rs180177315
NM_012203.2(GRHPR):c.593_594del (p.Glu198fs) rs1588757756
NM_012203.2(GRHPR):c.626C>T (p.Ser209Phe)
NM_012203.2(GRHPR):c.68T>C (p.Leu23Pro)
NM_012203.2(GRHPR):c.694del (p.Gln232fs) rs796052082
NM_012203.2(GRHPR):c.761T>C (p.Leu254Pro)
NM_012203.2(GRHPR):c.769dup (p.Ala257fs)
NM_012203.2(GRHPR):c.783del (p.Lys262fs)
NM_012203.2(GRHPR):c.83+1G>C rs1822898131
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.866_867delTG
NM_012203.2(GRHPR):c.890_891dup (p.Thr298fs)
NM_012203.2(GRHPR):c.930_931dup (p.Asn311fs)
NM_012203.2(GRHPR):c.934A>G (p.Asn312Asp) rs180177324
NM_012203.2(GRHPR):c.965T>C (p.Met322Thr) rs180177325
NM_012203.2(GRHPR):c.965T>G (p.Met322Arg) rs180177325
NM_012203.2:c.215_493del

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