ClinVar Miner

List of variants in gene KMT2B studied for neurodevelopmental disorder

Included ClinVar conditions (779):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014727.3(KMT2B):c.121G>T (p.Glu41Ter) rs1969025340
NM_014727.3(KMT2B):c.428C>T (p.Ser143Phe)
NM_014727.3(KMT2B):c.430C>T (p.Gln144Ter)

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