ClinVar Miner

List of variants in gene KMT2A reported as pathogenic for Kabuki syndrome 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys) rs940325244
NM_001197104.2(KMT2A):c.5803-1G>A rs1555044700

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