List of variants reported as likely pathogenic for Sponastrime dysplasia by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys)	rs563710728	0.00002
NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys)	rs775551492	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.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.3096dup (p.Gln1033fs)	rs1823342505
NM_013432.5(TONSL):c.3589T>C (p.Ser1197Pro)	rs1586681982

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