List of variants reported as pathogenic for Rhizomelic chondrodysplasia punctata

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
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.653C>T (p.Ala218Val)	rs121909151	0.00003
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)	rs121909154	0.00001
NM_000288.4(PEX7):c.429del (p.Val144fs)	rs61753248	0.00001
NC_000002.11:g.(178362494_178364345)_(178372760_178378546)del
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)	rs62636519
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)	rs763514968
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)	rs121909153
NM_001351132.2(PEX5):c.677dup (p.Val227fs)	rs796051881
NM_014236.4(GNPAT):c.1583_1586del (p.Leu528fs)	rs2102825068

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