ClinVar Miner

List of variants in gene KMT2D reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 10
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HGVS dbSNP
NM_003482.3(KMT2D):c.11829_11831GCA[2] (p.Gln3947del) rs1027832047
NM_003482.3(KMT2D):c.12136G>A (p.Gly4046Arg) rs1565775707
NM_003482.3(KMT2D):c.13032del (p.Lys4345fs) rs398123716
NM_003482.3(KMT2D):c.13685T>C (p.Leu4562Pro) rs1555187179
NM_003482.3(KMT2D):c.14382+1G>C rs1555186428
NM_003482.3(KMT2D):c.299G>C (p.Gly100Ala) rs371058953
NM_003482.3(KMT2D):c.3893C>A (p.Ser1298Tyr) rs760144885
NM_003482.3(KMT2D):c.4342_4343TG[1] (p.Cys1448_Asp1449delinsTer) rs1064797168
NM_003482.3(KMT2D):c.7018C>T (p.Pro2340Ser) rs1297761342
NM_003482.3(KMT2D):c.8507G>A (p.Arg2836His) rs886202729

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