List of variants studied for Roussy-Levy syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000304.4(PMP22):c.396C>T (p.Tyr132=)	rs74361095	0.00743
NM_000304.4(PMP22):c.79-6C>T	rs201682989	0.00069
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	rs200151353	0.00051
NM_000304.4(PMP22):c.-134G>A	rs754758124	0.00013
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)	rs756046682	0.00004
NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	rs121913603	0.00004
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)	rs755701957	0.00002
NM_000304.4(PMP22):c.478G>A (p.Glu160Lys)	rs1022583382	0.00001
NM_000304.4(PMP22):c.434del (p.Leu145fs)	rs863225029
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)	rs121913595
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)	rs1553259648

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