ClinVar Miner

List of variants reported for MN1 C-terminal truncation (MCTT) syndrome by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_002430.3(MN1):c.3730_3731insAAGAC (p.Thr1244fs) rs1933304057
NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter) rs761317200
NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter) rs1933302820
NM_002430.3(MN1):c.3817C>T (p.Gln1273Ter) rs1601319615
NM_002430.3(MN1):c.3839del (p.Cys1280fs) rs1601319594
NM_002430.3(MN1):c.3849_3850delinsA (p.His1284fs) rs1932759453
NM_002430.3(MN1):c.3870_3879dup (p.Ala1294Ter) rs1601319538
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002430.3(MN1):c.3893_3894dup (p.Pro1299fs) rs1932758837
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter) rs1601319501

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