ClinVar Miner

List of variants reported as benign for Primary hyperoxaluria, type I by Illumina Laboratory Services, Illumina

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.*289A>C rs4344931 0.74589
NM_000030.3(AGXT):c.*41C>A rs4273214 0.30802
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527 0.15412
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882 0.15328
NM_000030.3(AGXT):c.358+13C>T rs34995778 0.14826
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047 0.12652
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser) rs34885252 0.02454
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912 0.01476
NM_000030.3(AGXT):c.976G>A (p.Val326Ile) rs115057148 0.00394
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) rs74205173 0.00022
NM_000030.3(AGXT):c.-23G>A rs116057889
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685

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