ClinVar Miner

List of variants reported as pathogenic for Primary hyperoxaluria by Integrated Genetics/Laboratory Corporation of America

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Total variants: 13
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NM_000030.3(AGXT):c.126del (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.33del (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.33dup (p.Lys12fs) rs180177201
NM_000030.3(AGXT):c.447_454del (p.Leu151fs) rs180177221
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile) rs121908524
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.519C>A (p.Cys173Ter) rs180177232
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000030.3(AGXT):c.777-1G>C rs180177267
NM_000030.3(AGXT):c.817_818AG[5] (p.Ser275fs) rs180177273
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter) rs119490108
NM_012203.2(GRHPR):c.494G>A (p.Gly165Asp) rs180177314
NM_012203.2(GRHPR):c.862_863TG[2] (p.Val289fs) rs180177321

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