ClinVar Miner

List of variants reported as uncertain significance for Primary hyperoxaluria, type II by Natera, Inc.

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr) rs143596402 0.00028
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile) rs369950120 0.00011
NM_012203.2(GRHPR):c.384G>A (p.Glu128=) rs372351685 0.00004
NM_012203.2(GRHPR):c.215-13_215-7del rs780759944 0.00003
NM_012203.2(GRHPR):c.108G>A (p.Ser36=) rs377072887 0.00002
NM_012203.2(GRHPR):c.511C>T (p.Arg171Cys) rs370733771 0.00002
NM_012203.2(GRHPR):c.14G>A (p.Arg5Gln) rs760538945 0.00001
NM_012203.2(GRHPR):c.874C>T (p.Pro292Ser) rs1823674233

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