ClinVar Miner

List of variants in gene KMT2D reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 24
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HGVS dbSNP
NM_003482.3(KMT2D):c.10233C>T (p.Asp3411=) rs148688181
NM_003482.3(KMT2D):c.11043G>A (p.Gln3681=) rs371444130
NM_003482.3(KMT2D):c.11957C>G (p.Ser3986Cys) rs768668663
NM_003482.3(KMT2D):c.15090T>G (p.Arg5030=) rs373414243
NM_003482.3(KMT2D):c.15200C>T (p.Thr5067Met) rs767962124
NM_003482.3(KMT2D):c.15797G>A (p.Arg5266His) rs201481646
NM_003482.3(KMT2D):c.16599G>A (p.Arg5533=) rs199798179
NM_003482.3(KMT2D):c.1965C>A (p.Pro655=) rs200939188
NM_003482.3(KMT2D):c.2204G>T (p.Cys735Phe) rs772901550
NM_003482.3(KMT2D):c.2206C>T (p.Pro736Ser) rs552543556
NM_003482.3(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653
NM_003482.3(KMT2D):c.3813A>T (p.Leu1271=) rs201794205
NM_003482.3(KMT2D):c.4389C>T (p.Thr1463=) rs372775501
NM_003482.3(KMT2D):c.5952C>A (p.Pro1984=) rs587783721
NM_003482.3(KMT2D):c.6349C>T (p.Pro2117Ser) rs758476128
NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869
NM_003482.3(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833
NM_003482.3(KMT2D):c.6811C>T (p.Pro2271Ser) rs199802471
NM_003482.3(KMT2D):c.7478G>A (p.Gly2493Glu) rs833819
NM_003482.3(KMT2D):c.7954A>C (p.Met2652Leu) rs147706410
NM_003482.3(KMT2D):c.8148_8149delTCinsCT (p.Pro2717Ser) rs398123761
NM_003482.3(KMT2D):c.9135C>T (p.Asp3045=)
NM_003482.3(KMT2D):c.9726C>T (p.Ala3242=) rs183688784
NM_003482.3(KMT2D):c.9729C>T (p.Ser3243=) rs369959158

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