ClinVar Miner

List of variants in gene KMT2C studied for developmental disorder of mental health

Included ClinVar conditions (729):
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.10513A>G (p.Asn3505Asp) rs140626076 0.00036
NM_170606.3(KMT2C):c.2351C>A (p.Ser784Tyr) rs780343727 0.00001
NM_170606.3(KMT2C):c.11008A>G (p.Asn3670Asp) rs2092512174
NM_170606.3(KMT2C):c.11670+1G>C
NM_170606.3(KMT2C):c.11683A>G (p.Ser3895Gly) rs2092042122
NM_170606.3(KMT2C):c.12704T>G (p.Ile4235Ser) rs2091568246
NM_170606.3(KMT2C):c.13040C>T (p.Pro4347Leu)
NM_170606.3(KMT2C):c.14707G>T (p.Ala4903Ser)
NM_170606.3(KMT2C):c.2447dup (p.Tyr816Ter) rs150073007
NM_170606.3(KMT2C):c.2698G>A (p.Gly900Arg) rs1366232611
NM_170606.3(KMT2C):c.3194C>G (p.Ala1065Gly) rs1284707010
NM_170606.3(KMT2C):c.3917A>G (p.Asp1306Gly) rs1249758583
NM_170606.3(KMT2C):c.4337G>A (p.Gly1446Glu)
NM_170606.3(KMT2C):c.560C>G (p.Ser187Ter) rs1563831738
NM_170606.3(KMT2C):c.6103C>A (p.Pro2035Thr) rs1053658283
NM_170606.3(KMT2C):c.6339A>C (p.Ser2113=) rs73161892
NM_170606.3(KMT2C):c.6374C>G (p.Pro2125Arg) rs2093433315
NM_170606.3(KMT2C):c.6902A>C (p.Gln2301Pro)
NM_170606.3(KMT2C):c.7070G>T (p.Gly2357Val) rs898494556
NM_170606.3(KMT2C):c.817G>A (p.Val273Met)
NM_170606.3(KMT2C):c.8649del (p.Arg2884fs) rs2093231242
NM_170606.3(KMT2C):c.9801C>G (p.Ile3267Met) rs2092584005
NM_170606.3(KMT2C):c.9918G>A (p.Met3306Ile)

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