ClinVar Miner

List of variants reported as benign for Primary hyperoxaluria, type I by Genome-Nilou Lab

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000030.3(AGXT):c.846+170C>T rs4675793 0.98913
NM_000030.3(AGXT):c.777-44A>G rs12464426 0.79262
NM_000030.3(AGXT):c.846+52G>A rs12695032 0.43208
NM_000030.3(AGXT):c.595+100G>A rs12997245 0.35955
NM_000030.3(AGXT):c.*41C>A rs4273214 0.30802
NM_000030.3(AGXT):c.846+199G>A rs13030904 0.30492
NM_000030.3(AGXT):c.524+91C>T rs10196315 0.29513
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.942+127C>T rs111576306 0.15015
NM_000030.3(AGXT):c.680+17C>T rs11693280 0.14843
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.847-83G>T rs11894759 0.12217
NM_000030.3(AGXT):c.358+163G>T rs11681134

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