ClinVar Miner

List of variants reported as uncertain significance for Primary hyperoxaluria, type II by Illumina Laboratory Services, Illumina

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys) rs78920863 0.00130
NM_012203.2(GRHPR):c.801A>C (p.Gly267=) rs141800325 0.00078
NM_012203.2(GRHPR):c.666C>T (p.Thr222=) rs146227450 0.00038
NM_012203.2(GRHPR):c.*24G>A rs202111075 0.00031
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr) rs143596402 0.00028
NM_012203.2(GRHPR):c.468C>T (p.Val156=) rs142509393 0.00026
NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln) rs199560759 0.00024
NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp) rs142835989 0.00018
NM_012203.2(GRHPR):c.336C>T (p.Ala112=) rs148778319 0.00014
NM_012203.2(GRHPR):c.149C>T (p.Ala50Val) rs150805048 0.00011
NM_012203.2(GRHPR):c.296G>A (p.Arg99Gln) rs146603229 0.00011
NM_012203.2(GRHPR):c.543G>C (p.Leu181=) rs370395134 0.00008
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu) rs185747820 0.00008
NM_012203.2(GRHPR):c.255C>T (p.Ile85=) rs372985143 0.00004
NM_012203.2(GRHPR):c.554G>A (p.Arg185His) rs1327662246 0.00003
NM_012203.2(GRHPR):c.812C>T (p.Thr271Met) rs750954346 0.00003
NM_012203.2(GRHPR):c.682A>G (p.Lys228Glu) rs74692381 0.00002
NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys) rs760782027 0.00001
NM_012203.2(GRHPR):c.551G>A (p.Gly184Glu) rs1823271331 0.00001
NM_012203.2(GRHPR):c.759C>G (p.Asp253Glu) rs770585067 0.00001
NM_012203.2(GRHPR):c.86G>A (p.Cys29Tyr) rs758049256 0.00001
NM_012203.2(GRHPR):c.*132T>C rs1823695311
NM_012203.2(GRHPR):c.156C>G (p.Ala52=) rs754532633
NM_012203.2(GRHPR):c.265G>C (p.Ala89Pro) rs1588751701
NM_012203.2(GRHPR):c.308C>T (p.Thr103Ile) rs761490627
NM_012203.2(GRHPR):c.601T>C (p.Ser201Pro) rs886063930
NM_012203.2(GRHPR):c.666C>G (p.Thr222=) rs146227450

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