ClinVar Miner

List of variants in gene KMT2D reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.14057A>C (p.Asn4686Thr) rs1188206999 0.00001
NM_003482.4(KMT2D):c.*1043del rs886049464
NM_003482.4(KMT2D):c.*1982del rs879897260
NM_003482.4(KMT2D):c.*296del rs745739172
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr) rs1943100257
NM_003482.4(KMT2D):c.11162TGCAGC[3] (p.3721LQ[3]) rs771711980
NM_003482.4(KMT2D):c.11723AGCAAC[1] (p.Gln3910_Gln3911del) rs398123709
NM_003482.4(KMT2D):c.11850GCA[1] (p.Gln3954del) rs886049475
NM_003482.4(KMT2D):c.5251AAG[2] (p.Lys1753del) rs886049482
NM_003482.4(KMT2D):c.7193T>C (p.Leu2398Pro) rs879792544
NM_003482.4(KMT2D):c.8047-7dup rs200754433
NM_003482.4(KMT2D):c.8431C>G (p.Gln2811Glu) rs1465332696

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