ClinVar Miner

List of variants in gene KMT2D reported as uncertain significance by Invitae

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Total variants: 33
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HGVS dbSNP
NM_003482.3(KMT2D):c.10774A>G (p.Met3592Val) rs372758101
NM_003482.3(KMT2D):c.11408G>C (p.Gly3803Ala)
NM_003482.3(KMT2D):c.11681T>C (p.Met3894Thr) rs1443728446
NM_003482.3(KMT2D):c.12339A>G (p.Gly4113=)
NM_003482.3(KMT2D):c.12478C>G (p.Leu4160Val) rs1437975816
NM_003482.3(KMT2D):c.12626C>T (p.Pro4209Leu)
NM_003482.3(KMT2D):c.14644-3C>G rs1555186093
NM_003482.3(KMT2D):c.1467G>A (p.Leu489=)
NM_003482.3(KMT2D):c.175A>G (p.Ser59Gly) rs1555198862
NM_003482.3(KMT2D):c.1844C>G (p.Ser615Cys) rs1565819202
NM_003482.3(KMT2D):c.2533C>T (p.Arg845Trp) rs746841307
NM_003482.3(KMT2D):c.2726C>T (p.Ser909Phe)
NM_003482.3(KMT2D):c.307C>T (p.Pro103Ser)
NM_003482.3(KMT2D):c.3688C>T (p.Pro1230Ser)
NM_003482.3(KMT2D):c.4151_4152delinsAA (p.Gly1384Glu) rs1565809602
NM_003482.3(KMT2D):c.4222T>G (p.Cys1408Gly) rs1555195432
NM_003482.3(KMT2D):c.5251_5253AAG[2] (p.Lys1753del) rs886049482
NM_003482.3(KMT2D):c.5319+3G>A rs372897046
NM_003482.3(KMT2D):c.6042G>T (p.Gln2014His) rs1161895683
NM_003482.3(KMT2D):c.624A>G (p.Lys208=) rs1565823783
NM_003482.3(KMT2D):c.6518C>T (p.Ser2173Leu) rs765654409
NM_003482.3(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003482.3(KMT2D):c.7169C>T (p.Pro2390Leu)
NM_003482.3(KMT2D):c.7202G>A (p.Arg2401His) rs375115132
NM_003482.3(KMT2D):c.7559G>A (p.Arg2520Gln)
NM_003482.3(KMT2D):c.7649C>A (p.Pro2550His)
NM_003482.3(KMT2D):c.7967T>C (p.Leu2656Ser)
NM_003482.3(KMT2D):c.8137G>A (p.Ala2713Thr) rs748969707
NM_003482.3(KMT2D):c.8162G>A (p.Gly2721Asp)
NM_003482.3(KMT2D):c.839+3A>G rs1555198242
NM_003482.3(KMT2D):c.9266T>C (p.Val3089Ala) rs1565787643
NM_003482.3(KMT2D):c.9436G>A (p.Ala3146Thr) rs1555190522
NM_003482.3(KMT2D):c.9822_9824GCA[5] (p.Gln3282dup) rs768814728

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