ClinVar Miner

List of variants in gene KMT2C studied for neurodevelopmental disorder

Included ClinVar conditions (779):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.14057A>G (p.Asn4686Ser) rs141106704 0.00015
NM_170606.3(KMT2C):c.7505C>T (p.Pro2502Leu) rs747943626 0.00001
NM_170606.3(KMT2C):c.11670+1G>C
NM_170606.3(KMT2C):c.12704T>G (p.Ile4235Ser) rs2091568246
NM_170606.3(KMT2C):c.13040C>T (p.Pro4347Leu)
NM_170606.3(KMT2C):c.14108T>G (p.Val4703Gly) rs2129093306
NM_170606.3(KMT2C):c.14707G>T (p.Ala4903Ser)
NM_170606.3(KMT2C):c.4337G>A (p.Gly1446Glu)
NM_170606.3(KMT2C):c.6902A>C (p.Gln2301Pro)
NM_170606.3(KMT2C):c.7825C>T (p.Arg2609Ter) rs2129115127
NM_170606.3(KMT2C):c.817G>A (p.Val273Met)
NM_170606.3(KMT2C):c.8250G>T (p.Arg2750Ser) rs1272370838
NM_170606.3(KMT2C):c.8649del (p.Arg2884fs) rs2093231242
NM_170606.3(KMT2C):c.9517+5G>A
NM_170606.3(KMT2C):c.9560C>G (p.Thr3187Ser)

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