List of variants reported as likely pathogenic for hereditary disorder of connective tissue by Suma Genomics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)	rs145588689	0.00162
NM_000138.5(FBN1):c.1495T>G (p.Cys499Gly)	rs2043778680
NM_001065.4(TNFRSF1A):c.295T>C (p.Cys99Arg)	rs104895228
NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	rs121912874
NM_004752.4(GCM2):c.1148T>C (p.Ile383Thr)	rs2113243235
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)	rs79318303

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