ClinVar Miner

List of variants studied for Primary hyperoxaluria, type II by Genome-Nilou Lab

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_012203.2(GRHPR):c.404+291T>C rs2768657 0.97430
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.404+153T>C rs2768658 0.60907
NM_012203.2(GRHPR):c.-92C>T rs4878690 0.27923
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) rs76299266 0.01042
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863 0.00130
NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe) rs147185003 0.00088
NM_012203.2(GRHPR):c.468C>T (p.Val156=) rs142509393 0.00026
NM_012203.2(GRHPR):c.1A>G (p.Met1Val) rs1554746094

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