ClinVar Miner

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

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NC_000001.10:g.158323371_158352947del29577
NC_000001.11:g.194043799_194353490dup
NC_000001.11:g.202057882_202124606dup
NC_000001.11:g.246924924_247245758dup
NC_000001.11:g.25320307_25719620dup
NC_000001.11:g.45650769_45929717dup
NC_000002.11:g.133725047_134126372del401326
NC_000002.11:g.159142708_159250404del107697
NC_000002.12:g.183054447_183247902dup
NC_000003.11:g.94689602_94823543del133942
NC_000003.12:g.30872874_31319912dup
NC_000004.11:g.31744797_31975862del231066
NC_000004.12:g.90236498_90494805dup
NC_000007.13:g.107262480_107286241del23762
NC_000007.14:g.39960093_40104664dup
NC_000008.10:g.13034651_13120326del85676
NC_000008.10:g.8790358_8891761del101404
NC_000008.11:g.23671119_23712463dup
NC_000008.11:g.90692712_90718088dup
NC_000009.11:g.17295644_17364986del69343
NC_000009.11:g.17298850_17357754del58905
NC_000011.10:g.5433500_5475233dup
NC_000011.9:g.105126944_105347752del220809
NC_000012.12:g.42127457_42199952dup
NC_000015.9:g.89595324_89652892del57569
NC_000019.9:g.23624728_24054225del429498
NC_000021.8:g.22418118_22450219del32102
NC_000023.10:g.151638056_151743864del105809
NC_000023.10:g.23209046_23463336del254291
NC_000023.10:g.74772380_74826319del53940
NC_000023.11:g.1435054_1493581dup
NM_013275.6(ANKRD11):c.2987G>T (p.Gly996Val) rs1205687342
NM_013275.6(ANKRD11):c.4414G>A (p.Glu1472Lys) rs1597451653
NM_013275.6(ANKRD11):c.5401G>A (p.Glu1801Lys) rs938676909
NR_033829.1(MIR4500HG):n.58_128+41006dup
NR_147836.1(LINC02714):n.599-7397_140620dup
Single allele

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