ClinVar Miner

List of variants in gene KMT2C, LOC123956272 studied for Kleefstra syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.1139G>T (p.Arg380Leu) rs138908625 0.00150
NM_170606.3(KMT2C):c.1042G>A (p.Asp348Asn) rs201834857 0.00013
NM_170606.3(KMT2C):c.1013-2A>G rs751158858
NM_170606.3(KMT2C):c.1038G>A (p.Val346=) rs770240292
NM_170606.3(KMT2C):c.1106T>C (p.Met369Thr)

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