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

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_000030.3(AGXT):c.866G>A (p.Arg289His)	rs61729604	0.00143
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys)	rs151185188	0.00051
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg)	rs142969817	0.00043
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys)	rs180177290	0.00043
NM_000030.3(AGXT):c.524+6C>A	rs770992934	0.00016
NM_000030.3(AGXT):c.1071+12C>T	rs375775541	0.00011
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys)	rs369664123	0.00011
NM_000030.3(AGXT):c.885G>A (p.Ala295=)	rs377132245	0.00011
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)	rs774030578	0.00011
NM_000030.3(AGXT):c.567C>T (p.Gly189=)	rs373612587	0.00008
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)	rs146525143	0.00007
NM_000030.3(AGXT):c.*160G>A	rs776483024	0.00006
NM_000030.3(AGXT):c.214A>C (p.Asn72His)	rs754637713	0.00006
NM_000030.3(AGXT):c.484G>A (p.Val162Met)	rs147497484	0.00004
NM_000030.3(AGXT):c.930C>T (p.Phe310=)	rs886055842	0.00004
NM_000030.3(AGXT):c.-14G>A	rs376396832	0.00003
NM_000030.3(AGXT):c.1071+13G>A	rs758413374	0.00003
NM_000030.3(AGXT):c.942+14T>G	rs886055843	0.00002
NM_000030.3(AGXT):c.*285G>A	rs567385270	0.00001
NM_000030.3(AGXT):c.*52C>G	rs547538869	0.00001
NM_000030.3(AGXT):c.1019T>C (p.Ile340Thr)	rs749568989	0.00001
NM_000030.3(AGXT):c.40C>T (p.Leu14=)	rs2058975287	0.00001
NM_000030.3(AGXT):c.510G>A (p.Gly170=)	rs965707125	0.00001
NM_000030.3(AGXT):c.537G>C (p.Leu179=)	rs565927450	0.00001
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn)	rs886055840	0.00001
NM_000030.3(AGXT):c.901C>T (p.Arg301Cys)	rs886055841	0.00001
NM_000030.3(AGXT):c.*162A>G	rs886055844
NM_000030.3(AGXT):c.*194A>T	rs2059043450
NM_000030.3(AGXT):c.1046G>A (p.Gly349Asp)	rs2059038329
NM_000030.3(AGXT):c.1065G>C (p.Thr355=)	rs143488099
NM_000030.3(AGXT):c.165+12G>C	rs201989825
NM_000030.3(AGXT):c.174C>A (p.Asp58Glu)	rs761756536
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala)	rs375712696
NM_000030.3(AGXT):c.32C>A (p.Pro11His)	rs34116584
NM_000030.3(AGXT):c.491A>T (p.Gln164Leu)	rs528938116
NM_000030.3(AGXT):c.524+3G>A	rs886055839
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln)	rs200317876

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