List of variants reported as pathogenic for chondrodysplasia punctata, brachytelephalangic, autosomal by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)	rs80338714	0.00003
NC_000023.10:g.(?_2835825)_(2878441_?)del
NC_000023.10:g.(?_2852873)_(2878441_?)del
NC_000023.11:g.(?_2934812)_(2958455_?)del
NM_000047.3(ARSL):c.1158del (p.Ile387fs)	rs2089231699
NM_000047.3(ARSL):c.131_140del (p.Met44fs)	rs2518385011
NM_000047.3(ARSL):c.1618C>T (p.Arg540Ter)	rs1335931206
NM_000047.3(ARSL):c.30T>A (p.Cys10Ter)
NM_000047.3(ARSL):c.74del (p.Leu25fs)	rs2147401694

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