List of variants in gene KMT2B reported as uncertain significance for Dystonia 28, childhood-onset; Intellectual developmental disorder, autosomal dominant 68

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_014727.3(KMT2B):c.398C>T (p.Ala133Val)	rs202048028	0.00021
NM_014727.3(KMT2B):c.3769C>T (p.Arg1257Cys)	rs956016804	0.00004
NM_014727.3(KMT2B):c.2587G>C (p.Val863Leu)
NM_014727.3(KMT2B):c.506T>C (p.Val169Ala)
NM_014727.3(KMT2B):c.5452G>A (p.Glu1818Lys)
NM_014727.3(KMT2B):c.7187C>T (p.Pro2396Leu)	rs754166338
NM_014727.3(KMT2B):c.7810T>C (p.Tyr2604His)

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