List of variants studied for rhizomelic chondrodysplasia punctata type 1 by Baylor Genetics

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Total variants: 16

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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.649G>A (p.Gly217Arg)	rs121909152	0.00005
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)	rs61753245	0.00004
NM_000288.4(PEX7):c.116A>C (p.His39Pro)	rs61753237	0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)	rs121909151	0.00003
NM_000288.4(PEX7):c.130+1G>A	rs267608253	0.00001
NM_000288.4(PEX7):c.188+1G>C	rs267608254	0.00001
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter)	rs764924345	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.188+1G>A	rs267608254
NM_000288.4(PEX7):c.233del (p.Asn78fs)	rs1582732852
NM_000288.4(PEX7):c.538_539del (p.Leu180fs)	rs1582757650
NM_000288.4(PEX7):c.735dup (p.Arg246Ter)	rs1582760004
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln)	rs267608257

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