List of variants reported as uncertain significance for Roussy-Levy syndrome

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	rs200151353	0.00051
NM_000530.8(MPZ):c.*752G>A	rs533147214	0.00034
NM_000530.8(MPZ):c.*341A>G	rs557613782	0.00033
NM_000530.8(MPZ):c.*435T>G	rs868502674	0.00026
NM_000304.4(PMP22):c.-134G>A	rs754758124	0.00013
NM_000530.8(MPZ):c.*1020G>A	rs886045472	0.00007
NM_000530.8(MPZ):c.*102C>T	rs774748921	0.00007
NM_000530.8(MPZ):c.*681A>T	rs886045474	0.00005
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)	rs756046682	0.00004
NM_000530.8(MPZ):c.428C>T (p.Thr143Met)	rs750724650	0.00004
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)	rs755701957	0.00002
NM_000530.8(MPZ):c.*522C>A	rs900816889	0.00002
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)	rs1022583382	0.00001
NM_000530.8(MPZ):c.*1074A>C	rs886045471	0.00001
NM_000530.8(MPZ):c.*369C>T	rs1359055917	0.00001
NM_000530.8(MPZ):c.*903G>A	rs1489097338	0.00001
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)	rs121913605	0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His)	rs201720099	0.00001
NM_000304.4(PMP22):c.260T>C (p.Leu87Pro)	rs1907114176
NM_000304.4(PMP22):c.422T>G (p.Val141Gly)	rs1057518804
NM_000530.8(MPZ):c.*251C>G	rs772995394
NM_000530.8(MPZ):c.*858T>C	rs886045473
NM_000530.8(MPZ):c.*954C>A	rs372340608
NM_000530.8(MPZ):c.184A>G (p.Ile62Val)	rs121913602
NM_000530.8(MPZ):c.265_270del (p.Ile89_Asp90del)
NM_000530.8(MPZ):c.444A>T (p.Glu148Asp)	rs1670257548
NM_000530.8(MPZ):c.515T>C (p.Leu172Pro)	rs886045475
NM_000530.8(MPZ):c.603dup (p.Leu202fs)

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