ClinVar Miner

List of variants reported as likely pathogenic for Primary hyperoxaluria, type II by Fulgent Genetics, Fulgent Genetics

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_012203.2(GRHPR):c.734+1G>A rs148049120 0.00006
NM_012203.2(GRHPR):c.735-1G>A rs180177317 0.00002
NM_012203.2(GRHPR):c.404+5G>A rs757796926 0.00001
NM_012203.2(GRHPR):c.735-2del rs1257080057 0.00001
NM_012203.2(GRHPR):c.865+1G>T rs771990662 0.00001
NM_012203.2(GRHPR):c.904C>T (p.Arg302Cys) rs180177322 0.00001
NM_012203.2(GRHPR):c.-4_-3delinsAT rs796052077
NM_012203.2(GRHPR):c.154del (p.Ala52fs) rs751101495
NM_012203.2(GRHPR):c.214+2T>G rs1057517398
NM_012203.2(GRHPR):c.597del (p.Phe199fs) rs1057516292

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