ClinVar Miner

List of variants reported as uncertain significance for Kabuki syndrome 1 by Genetic Services Laboratory, University of Chicago

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=) rs73302197 0.01361
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_003482.4(KMT2D):c.11886A>G (p.Gln3962=) rs180784366 0.00056
NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His) rs3782356 0.00025
NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=) rs371444130 0.00016
NM_003482.4(KMT2D):c.10444C>T (p.Arg3482Trp) rs201127814 0.00014
NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108 0.00007
NM_003482.4(KMT2D):c.12270G>A (p.Gln4090=) rs370665309 0.00006
NM_003482.4(KMT2D):c.10312G>A (p.Val3438Met) rs35087111 0.00004
NM_003482.4(KMT2D):c.16412+13G>A rs587783701 0.00004
NM_003482.4(KMT2D):c.14840C>A (p.Pro4947His) rs587783694 0.00001
NM_003482.4(KMT2D):c.4123C>T (p.Leu1375=) rs1368572 0.00001
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr) rs587783724 0.00001
NM_003482.4(KMT2D):c.6844C>T (p.Arg2282Trp) rs587783726 0.00001
NM_003482.4(KMT2D):c.7170G>A (p.Pro2390=) rs3741625 0.00001
NM_003482.4(KMT2D):c.11563G>C (p.Ala3855Pro) rs77538244
NM_003482.4(KMT2D):c.12768C>T (p.Leu4256=) rs71464946
NM_003482.4(KMT2D):c.15245T>G (p.Val5082Gly) rs75031009
NM_003482.4(KMT2D):c.15361G>T (p.Ala5121Ser) rs79330925
NM_003482.4(KMT2D):c.2078C>A (p.Pro693His) rs76663644
NM_003482.4(KMT2D):c.2657C>T (p.Pro886Leu) rs587783709
NM_003482.4(KMT2D):c.3803A>C (p.Asp1268Ala) rs74643880
NM_003482.4(KMT2D):c.4083G>C (p.Gln1361His) rs764941
NM_003482.4(KMT2D):c.4131G>C (p.Gln1377His) rs764942
NM_003482.4(KMT2D):c.4343G>A (p.Cys1448Tyr) rs587783716
NM_003482.4(KMT2D):c.4418+5G>A rs587783717
NM_003482.4(KMT2D):c.8360A>C (p.Asn2787Thr) rs78415116
NM_003482.4(KMT2D):c.968G>A (p.Cys323Tyr) rs78617409

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