List of variants reported as likely pathogenic for rhizomelic chondrodysplasia punctata type 1 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000288.4(PEX7):c.340-10A>G	rs267608255	0.00006
NM_000288.4(PEX7):c.429del (p.Val144fs)	rs61753248	0.00001
NM_000288.4(PEX7):c.188+1G>A	rs267608254
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter)	rs2115170536
NM_000288.4(PEX7):c.418-1G>A	rs773406384

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