ClinVar Miner

List of variants in gene GRHPR reported as benign for Primary hyperoxaluria, type II

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Total variants: 23
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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.734+9G>A rs56401536 0.04769
NM_012203.2(GRHPR):c.*146A>G rs1057507 0.03576
NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln) rs12002324 0.01219
NM_012203.2(GRHPR):c.963G>A (p.Pro321=) rs76299266 0.01042
NM_012203.2(GRHPR):c.493+9C>T rs41303225 0.00873
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu) rs142356700 0.00474
NM_012203.2(GRHPR):c.512G>A (p.Arg171His) rs200106110 0.00143
NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe) rs147185003 0.00088
NM_012203.2(GRHPR):c.801A>C (p.Gly267=) rs141800325 0.00078
NM_012203.2(GRHPR):c.387C>A (p.Ala129=) rs529454212 0.00028
NM_012203.2(GRHPR):c.844C>T (p.Leu282Phe) rs202120724 0.00024
NM_012203.2(GRHPR):c.34A>G (p.Thr12Ala) rs761847384 0.00006
NM_012203.2(GRHPR):c.357A>G (p.Leu119=) rs186922220 0.00005
NM_012203.2(GRHPR):c.636C>T (p.Ile212=) rs548848730 0.00001
NM_012203.1(GRHPR):c.866-25CT[9] rs34302950
NM_012203.2(GRHPR):c.83+52del rs35891798
NM_012203.2(GRHPR):c.871C>T (p.Leu291=) rs1135283

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