ClinVar Miner

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

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Total variants: 36
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HGVS dbSNP
NM_012203.1(GRHPR):c.102G>A (p.Trp34Ter) rs180177304
NM_012203.1(GRHPR):c.154delG (p.Ala52Profs) rs751101495
NM_012203.1(GRHPR):c.188_189delTG (p.Val63Glyfs) rs1554746565
NM_012203.1(GRHPR):c.1A>G (p.Met1Val) rs1554746094
NM_012203.1(GRHPR):c.1A>T (p.Met1Leu) rs1554746094
NM_012203.1(GRHPR):c.214+1G>C rs1244822375
NM_012203.1(GRHPR):c.214+1G>T rs1244822375
NM_012203.1(GRHPR):c.214+2T>G rs1057517398
NM_012203.1(GRHPR):c.215-2_215-1delAG rs1554746793
NM_012203.1(GRHPR):c.228dupA (p.Val77Serfs) rs1057517238
NM_012203.1(GRHPR):c.2T>G (p.Met1Arg) rs1554746097
NM_012203.1(GRHPR):c.337G>A (p.Glu113Lys) rs180177307
NM_012203.1(GRHPR):c.337G>T (p.Glu113Ter) rs180177307
NM_012203.1(GRHPR):c.404+3_404+6delAAGT rs180177309
NM_012203.1(GRHPR):c.404delA (p.Asn135Metfs) rs1057516299
NM_012203.1(GRHPR):c.405-1G>A rs779208888
NM_012203.1(GRHPR):c.435_436delGC (p.Trp145Cysfs) rs1057517333
NM_012203.1(GRHPR):c.441_442delTG (p.Cys147Trpfs) rs1057517026
NM_012203.1(GRHPR):c.454dupA (p.Thr152Asnfs) rs771019056
NM_012203.1(GRHPR):c.493+2T>A rs180177313
NM_012203.1(GRHPR):c.496delC (p.Gln166Argfs) rs1554747871
NM_012203.1(GRHPR):c.515delT (p.Leu172Argfs) rs1057516990
NM_012203.1(GRHPR):c.597delT (p.Phe199Leufs) rs1057516292
NM_012203.1(GRHPR):c.598+1G>T rs111256477
NM_012203.1(GRHPR):c.598+1delG rs1554747933
NM_012203.1(GRHPR):c.599-1G>C rs1422977131
NM_012203.1(GRHPR):c.735-1G>A rs180177317
NM_012203.1(GRHPR):c.735-2delA rs1257080057
NM_012203.1(GRHPR):c.755dupA (p.Asp252Glufs) rs1057516823
NM_012203.1(GRHPR):c.781_782delGGinsTAC (p.Gly261Tyrfs) rs1554748528
NM_012203.1(GRHPR):c.783dup (p.Lys262Terfs) rs1554748534
NM_012203.1(GRHPR):c.849dup (p.Thr284Aspfs) rs1554748574
NM_012203.1(GRHPR):c.863delG (p.Cys288Leufs) rs1554748598
NM_012203.1(GRHPR):c.864_865delTG (p.Val289Aspfs) rs180177321
NM_012203.1(GRHPR):c.954delA (p.Glu320Serfs) rs1057516831
NM_012203.1:c.617_671del

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