ClinVar Miner

List of variants reported as uncertain significance for Xanthinuria by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000379.4(XDH):c.2198-7T>A	rs750072647	0.00001
NM_000379.4(XDH):c.*1094A>C	rs886055943
NM_000379.4(XDH):c.2592C>T (p.His864=)	rs368056609
NM_000379.4(XDH):c.3277-13del	rs752820043

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