ClinVar Miner

List of variants studied for Kleefstra syndrome 2 by 3billion

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.11269_11270del (p.Gln3757fs)
NM_170606.3(KMT2C):c.11812+2T>C rs2129099779
NM_170606.3(KMT2C):c.6769C>T (p.Arg2257Ter)
NM_170606.3(KMT2C):c.6925C>T (p.Gln2309Ter) rs2129119384
NM_170606.3(KMT2C):c.8252C>T (p.Ser2751Leu)

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