ClinVar Miner

List of variants reported as likely pathogenic for Sponastrime dysplasia

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728 0.00001
NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys) rs775551492 0.00001
NM_013432.5(TONSL):c.1531C>T (p.Gln511Ter) rs761727821 0.00001
NM_013432.5(TONSL):c.2407C>T (p.Gln803Ter) rs769100855 0.00001
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp) rs755575416 0.00001
NM_013432.5(TONSL):c.3796dup (p.Arg1266fs) rs782733226 0.00001
NM_013432.5(TONSL):c.460C>T (p.Gln154Ter) rs1026265047 0.00001
NM_013432.5(TONSL):c.122-5C>G rs1341244760
NM_013432.5(TONSL):c.1435del (p.Glu479fs)
NM_013432.5(TONSL):c.1602_1612del (p.Ala536fs) rs1586692058
NM_013432.5(TONSL):c.1864dup (p.Ala622fs) rs762903420
NM_013432.5(TONSL):c.2638_2647delinsGG (p.Arg880fs) rs1586687279
NM_013432.5(TONSL):c.2776-2A>G rs2130847575
NM_013432.5(TONSL):c.2952_2953delinsT (p.Ala985fs)
NM_013432.5(TONSL):c.3096dup (p.Gln1033fs) rs1823342505
NM_013432.5(TONSL):c.3589T>C (p.Ser1197Pro) rs1586681982
NM_013432.5(TONSL):c.3967_3968dup (p.Leu1324fs) rs2130831990

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