List of variants reported as uncertain significance for hereditary disorder of connective tissue by Molecular Genetics, Royal Melbourne Hospital

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001084.5(PLOD3):c.670G>C (p.Gly224Arg)	rs377578690	0.00009
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)	rs104895128	0.00001
NM_000138.5(FBN1):c.7007A>T (p.Glu2336Val)
NM_001367624.2(ZNF469):c.11353del (p.Gln3785fs)
NM_001370466.1(NOD2):c.139T>C (p.Phe47Leu)
NM_001844.5(COL2A1):c.924+2T>A
NM_001999.4(FBN2):c.8143G>T (p.Gly2715Trp)	rs772569905
NM_003183.6(ADAM17):c.2390del (p.Asp797fs)	rs2124947949
NM_003239.5(TGFB3):c.1080G>A (p.Thr360=)	rs1555360212
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser)	rs1555360033
NM_015922.3(NSDHL):c.414+2T>C
NM_020182.5(PMEPA1):c.624dup (p.Ser209fs)

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