List of variants reported as likely pathogenic for CEBALID syndrome

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002430.3(MN1):c.1363A>T (p.Lys455Ter)
NM_002430.3(MN1):c.3680G>A (p.Trp1227Ter)	rs2146315211
NM_002430.3(MN1):c.3744G>A (p.Trp1248Ter)	rs1297805962
NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter)	rs761317200
NM_002430.3(MN1):c.3822del (p.Gly1275fs)
NM_002430.3(MN1):c.3953C>A (p.Ala1318Asp)	rs2123873148
NM_002430.3(MN1):c.487G>T (p.Glu163Ter)
NM_004958.4(MTOR):c.4356A>T (p.Lys1452Asn)	rs1644348291
NM_004958.4(MTOR):c.4555G>A (p.Ala1519Thr)	rs1644090362
NM_004958.4(MTOR):c.4556C>T (p.Ala1519Val)	rs1644090272
NM_004958.4(MTOR):c.6050T>C (p.Ile2017Thr)	rs1642915400
NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile)	rs1553171141

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