ClinVar Miner

List of variants reported as likely pathogenic by Aziz Sancar Institute of Experimental Medicine, Istanbul University

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001370259.2(MEN1):c.*470A>G	rs778272737	0.00048
NM_001370259.2(MEN1):c.*412G>A	rs972128957	0.00003
NM_000153.4(GALC):c.1394C>T (p.Thr465Ile)	rs1566974586

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