ClinVar Miner

List of variants reported as benign by Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_013275.6(ANKRD11):c.5198C>T (p.Ala1733Val) rs148243995 0.00140
NM_013275.6(ANKRD11):c.6434C>T (p.Thr2145Ile) rs761862402 0.00004
NC_000005.10:g.69553767_71361920dup
NC_000005.9:g.68818173_70657747del1839575
NC_000005.9:g.69741318_70422356del681039
NC_000005.9:g.69767948_70345611del577664
NC_000005.9:g.70308101_70657747del349647
NC_000006.11:g.259528_293493del33966
NC_000006.11:g.259881_378956del119076
NC_000006.11:g.259881_389482del129602
NC_000006.11:g.279667_378956del99290
NC_000006.11:g.283968_375949del91982
NC_000006.12:g.259881_378956dup
NC_000006.12:g.299363_378956dup
NR_104475.1(DUSP22):n.-32176_504+10738dup

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