List of variants in gene KMT2C reported as likely benign for Kleefstra syndrome 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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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.2702T>C (p.Leu901Pro)	rs370313067	0.00036
NM_170606.3(KMT2C):c.5171G>T (p.Ser1724Ile)	rs138819584	0.00032
NM_170606.3(KMT2C):c.10980G>A (p.Ser3660=)	rs201190450	0.00019
NM_170606.3(KMT2C):c.6383A>C (p.Gln2128Pro)	rs368424013	0.00011
NM_170606.3(KMT2C):c.1700A>G (p.Asn567Ser)	rs12674022	0.00006
NM_170606.3(KMT2C):c.10054C>G (p.Gln3352Glu)	rs2092568887
NM_170606.3(KMT2C):c.11665A>C (p.Lys3889Gln)
NM_170606.3(KMT2C):c.162-7del	rs376309362
NM_170606.3(KMT2C):c.3821A>G (p.Lys1274Arg)	rs2487956760
NM_170606.3(KMT2C):c.4907C>T (p.Thr1636Met)
NM_170606.3(KMT2C):c.596G>A (p.Arg199Gln)	rs369725088
NM_170606.3(KMT2C):c.6302C>T (p.Pro2101Leu)	rs2093435062
NM_170606.3(KMT2C):c.7236C>T (p.Pro2412=)	rs140215243
NM_170606.3(KMT2C):c.7445T>C (p.Phe2482Ser)	rs530218895

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