List of variants studied for Kleefstra syndrome 2 by Baylor Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_170606.3(KMT2C):c.6638G>C (p.Gly2213Ala)	rs1447958658	0.00001
NM_170606.3(KMT2C):c.9905C>T (p.Pro3302Leu)	rs2092577305	0.00001
NM_170606.3(KMT2C):c.10054C>G (p.Gln3352Glu)	rs2092568887
NM_170606.3(KMT2C):c.10300dup (p.His3434fs)
NM_170606.3(KMT2C):c.10789A>G (p.Ile3597Val)	rs2092524691
NM_170606.3(KMT2C):c.13198C>T (p.Arg4400Trp)	rs144905657
NM_170606.3(KMT2C):c.13364G>A (p.Arg4455Lys)
NM_170606.3(KMT2C):c.1522C>G (p.Leu508Val)	rs2095570221
NM_170606.3(KMT2C):c.2776A>C (p.Thr926Pro)
NM_170606.3(KMT2C):c.303C>G (p.Ser101Arg)
NM_170606.3(KMT2C):c.577A>G (p.Arg193Gly)	rs2096711264
NM_170606.3(KMT2C):c.6875del (p.Pro2292fs)
NM_170606.3(KMT2C):c.8284C>G (p.Pro2762Ala)
NM_170606.3(KMT2C):c.8543del (p.Asn2848fs)	rs2093235396

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