List of variants reported as likely pathogenic for congenital limb malformation by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001003722.2(GLE1):c.1706G>A (p.Arg569His)	rs121434407	0.00010
NM_001003722.2(GLE1):c.1750C>T (p.Arg584Trp)	rs765269946	0.00003
NM_013292.5(MYL11):c.469T>C (p.Cys157Arg)	rs748809300	0.00002
NM_001003722.2(GLE1):c.2078C>T (p.Ser693Phe)	rs1564162129
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)	rs55770810
NM_007294.4(BRCA1):c.594_597delTGTG	rs797045175
NM_013292.5(MYL11):c.470G>T (p.Cys157Phe)	rs756765686
NM_013292.5(MYL11):c.487G>A (p.Gly163Ser)	rs2049768364
NM_013292.5(MYL11):c.98C>T (p.Ala33Val)	rs2049733161

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