List of variants reported as pathogenic for 3M syndrome 2 by 3billion

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_015311.3(OBSL1):c.1068_1075dup (p.Val359fs)	rs2106102918
NM_015311.3(OBSL1):c.1260dup (p.Val421fs)
NM_015311.3(OBSL1):c.35dup (p.Cys13fs)	rs752401295
NM_015311.3(OBSL1):c.458dup (p.Leu154fs)	rs767237510

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