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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)	rs1805137	0.00048
NM_000288.4(PEX7):c.903+1G>C	rs148591292	0.00011
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)	rs61753238	0.00010
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)	rs121909152	0.00005
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)	rs61753245	0.00004
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)	rs121909151	0.00003
NM_000288.4(PEX7):c.188+1G>C	rs267608254	0.00001
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)	rs121909154	0.00001
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)	rs62636519
NM_000288.4(PEX7):c.183del (p.Phe61fs)	rs774131564
NM_000288.4(PEX7):c.283T>G (p.Trp95Gly)
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)	rs121909153
NM_000288.4(PEX7):c.858_867del (p.Glu287fs)

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