ClinVar Miner

List of variants studied for Kabuki syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.7479G>T (p.Gly2493=) rs10747559 0.42978
NM_003482.4(KMT2D):c.10836G>A (p.Gln3612=) rs3782357 0.42594
NM_003482.4(KMT2D):c.2826C>T (p.Ile942=) rs2241726 0.39054
NM_003482.4(KMT2D):c.12510A>G (p.Pro4170=) rs3741622 0.25778
NM_003482.4(KMT2D):c.1426G>A (p.Ala476Thr) rs1064210 0.09584
NM_003482.4(KMT2D):c.4020+27A>G rs77395760 0.02314
NM_003482.4(KMT2D):c.5217C>T (p.Gly1739=) rs111924728 0.01973
NM_003482.4(KMT2D):c.8091C>T (p.Arg2697=) rs116686402 0.01940
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=) rs111305262 0.01710
NM_003482.4(KMT2D):c.11610G>A (p.Met3870Ile) rs73302195 0.01486
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=) rs73302197 0.01361
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_003482.4(KMT2D):c.7144C>T (p.Pro2382Ser) rs3741626 0.00649
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_001291415.2(KDM6A):c.1683+3G>A rs61751429 0.00283
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met) rs112921115 0.00076
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro) rs370243498 0.00031
NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=) rs368967997 0.00020
NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys) rs766543419 0.00009
NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg) rs370298215 0.00002
NM_003482.4(KMT2D):c.4865G>C (p.Gly1622Ala) rs377457393 0.00002
NM_003482.4(KMT2D):c.10410G>T (p.Leu3470=) rs747438612 0.00001
NM_003482.4(KMT2D):c.6235-32C>A rs371302554 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_001291415.2(KDM6A):c.1874C>T (p.Ser625Phe) rs765545282
NM_003482.4(KMT2D):c.12038G>A (p.Gly4013Glu) rs1592118836
NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser)
NM_003482.4(KMT2D):c.16412+16del rs34546217
NM_003482.4(KMT2D):c.2798-7del rs112620957
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566

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