ClinVar Miner

List of variants in gene MN1 studied for CEBALID syndrome

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_002430.3(MN1):c.2783C>T (p.Ser928Leu) rs746306235 0.00001
NM_002430.3(MN1):c.1363A>T (p.Lys455Ter)
NM_002430.3(MN1):c.1415C>A (p.Ser472Ter) rs1933378166
NM_002430.3(MN1):c.1915C>A (p.Pro639Thr) rs1933357660
NM_002430.3(MN1):c.2146G>A (p.Gly716Arg)
NM_002430.3(MN1):c.2211G>A (p.Thr737=) rs1210433639
NM_002430.3(MN1):c.2464C>T (p.Gln822Ter)
NM_002430.3(MN1):c.2612C>T (p.Ala871Val) rs776690759
NM_002430.3(MN1):c.3555C>A (p.Cys1185Ter) rs1933308051
NM_002430.3(MN1):c.3665A>T (p.Glu1222Val)
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.3778G>T (p.Glu1260Ter) rs1933302820
NM_002430.3(MN1):c.3794del (p.Pro1265fs)
NM_002430.3(MN1):c.3817C>T (p.Gln1273Ter) rs1601319615
NM_002430.3(MN1):c.3822del (p.Gly1275fs)
NM_002430.3(MN1):c.3835C>T (p.Gln1279Ter) rs1601319598
NM_002430.3(MN1):c.3846_3849del (p.Val1283fs) rs1601319584
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.3900del (p.Trp1301fs) rs1932758693
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter) rs1601319501
NM_002430.3(MN1):c.3953C>A (p.Ala1318Asp) rs2123873148
NM_002430.3(MN1):c.487G>T (p.Glu163Ter)
NM_002430.3(MN1):c.56G>C (p.Gly19Ala) rs200030766

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