ClinVar Miner

List of variants reported for Kleefstra syndrome 2 by Fulgent Genetics, Fulgent Genetics

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.4508-12A>T rs28418446 0.01078
NM_170606.3(KMT2C):c.162-17T>A rs187902675 0.00620
NM_170606.3(KMT2C):c.11139C>T (p.Ala3713=) rs140482040 0.00273
NM_170606.3(KMT2C):c.1139G>T (p.Arg380Leu) rs138908625 0.00150
NM_170606.3(KMT2C):c.2702T>C (p.Leu901Pro) rs370313067 0.00036
NM_170606.3(KMT2C):c.5171G>T (p.Ser1724Ile) rs138819584 0.00033
NM_170606.3(KMT2C):c.10980G>A (p.Ser3660=) rs201190450 0.00016
NM_170606.3(KMT2C):c.6835C>A (p.Pro2279Thr) rs775809939 0.00002
NM_170606.3(KMT2C):c.12194C>T (p.Ala4065Val) rs141966811 0.00001
NM_170606.3(KMT2C):c.5851G>A (p.Asp1951Asn) rs781220804 0.00001
NM_170606.3(KMT2C):c.709A>G (p.Ile237Val) rs587778510 0.00001
NM_170606.3(KMT2C):c.1038G>A (p.Val346=) rs770240292
NM_170606.3(KMT2C):c.162-7del rs376309362
NM_170606.3(KMT2C):c.7236C>T (p.Pro2412=) rs140215243

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