ClinVar Miner

List of variants reported as likely pathogenic for Primary hyperoxaluria, type II by Myriad Genetics, Inc.

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_012203.2(GRHPR):c.734+1G>A rs148049120 0.00006
NM_012203.2(GRHPR):c.136G>T (p.Glu46Ter) rs202022170
NM_012203.2(GRHPR):c.306C>A (p.Tyr102Ter) rs1823086297
NM_012203.2(GRHPR):c.319dup (p.Leu107fs)
NM_012203.2(GRHPR):c.338_351del (p.Glu113fs)
NM_012203.2(GRHPR):c.404+3_404+6del rs180177309
NM_012203.2(GRHPR):c.457C>T (p.Gln153Ter) rs1341484544
NM_012203.2(GRHPR):c.496C>T (p.Gln166Ter)
NM_012203.2(GRHPR):c.499_500insAGAGT (p.Ala167fs)
NM_012203.2(GRHPR):c.532del (p.Gln178fs)
NM_012203.2(GRHPR):c.586del (p.Gln196fs)

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