ClinVar Miner

List of variants studied for Primary hyperoxaluria by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 19
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HGVS dbSNP
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser) rs569643246
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs) rs180177166
NM_000030.3(AGXT):c.126del (p.Leu43fs) rs180177171
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
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.577dup (p.Leu193fs) rs180177241
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr) rs121908525
NM_000030.3(AGXT):c.777-1G>C rs180177267
NM_000030.3(AGXT):c.823_824dup (p.Ser275fs) rs180177273
NM_000030.3(AGXT):c.847-1G>C rs180177285
NM_000030.3(AGXT):c.976del (p.Val326fs) rs180177301
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.866_867del (p.Val289fs) rs180177321

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