List of variants reported as pathogenic for hereditary disorder of connective tissue by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_000302.4(PLOD1):c.979C>T (p.Gln327Ter)	rs1224538282	0.00001
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter)	rs1399676515	0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)	rs121913499	0.00001
NM_000127.3(EXT1):c.1469del (p.Leu490fs)	rs886039356
NM_000138.5(FBN1):c.5112_5146del (p.Thr1705fs)
NM_000138.5(FBN1):c.7429C>T (p.Gln2477Ter)	rs2141226269
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)	rs121912893
NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter)	rs2136520087
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)	rs104893809
NM_207122.2(EXT2):c.1006C>T (p.Gln336Ter)	rs1954414269
NM_207122.2(EXT2):c.626+2_626+5del	rs1954108641

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