List of variants reported as pathogenic for congenital limb malformation by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)	rs77543610
NM_006306.4(SMC1A):c.2035G>T (p.Glu679Ter)	rs1569356968
NM_016213.5(TRIP4):c.265A>T (p.Lys89Ter)
NM_017988.6(SCYL2):c.214_234del (p.Asp72_Glu78del)
NM_018486.3(HDAC8):c.356C>G (p.Thr119Arg)	rs587779380
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)	rs398124465
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)	rs587784036

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