ClinVar Miner

List of variants studied for Kleefstra syndrome 2 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.11651C>T (p.Thr3884Met) rs140246095 0.00008
GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1
NM_170606.3(KMT2C):c.10931C>T (p.Pro3644Leu) rs2129103910
NM_170606.3(KMT2C):c.13583A>T (p.Gln4528Leu) rs1249858653
NM_170606.3(KMT2C):c.1829_1830del (p.Thr610fs) rs1588573059
NM_170606.3(KMT2C):c.2983A>G (p.Lys995Glu)
NM_170606.3(KMT2C):c.5088dup (p.Ala1697fs) rs2093489078
NM_170606.3(KMT2C):c.6589C>T (p.Gln2197Ter) rs2093425957
NM_170606.3(KMT2C):c.7207C>T (p.Arg2403Ter) rs767365126
NM_170606.3(KMT2C):c.749G>A (p.Trp250Ter)
NM_170606.3(KMT2C):c.8045C>T (p.Ser2682Phe) rs745935927

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