List of variants in gene combination CASD1, SGCE reported as likely pathogenic for myoclonic dystonia 11

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_003919.3(SGCE):c.1065-2A>G	rs368043832	0.00001
NM_003919.3(SGCE):c.1058_1062del (p.Thr353fs)
NM_003919.3(SGCE):c.1062dup (p.Asp355fs)
NM_003919.3(SGCE):c.110-1G>T
NM_003919.3(SGCE):c.1163del (p.Pro388fs)
NM_003919.3(SGCE):c.170T>G (p.Leu57Arg)	rs1584700882
NM_003919.3(SGCE):c.390+2T>C
NM_003919.3(SGCE):c.434_442dup (p.Asn145_Ile147dup)	rs1562853011
NM_003919.3(SGCE):c.491T>C (p.Phe164Ser)
NM_003919.3(SGCE):c.549_552del (p.Phe183fs)	rs1554352952
NM_003919.3(SGCE):c.551T>C (p.Leu184Pro)	rs1064794321
NM_003919.3(SGCE):c.662+1G>C
NM_003919.3(SGCE):c.662+2T>A	rs2116880438
NM_003919.3(SGCE):c.663-4_666del	rs2116724823
NM_003919.3(SGCE):c.680G>T (p.Gly227Val)
NM_003919.3(SGCE):c.742T>A (p.Cys248Ser)	rs1584546494
NM_003919.3(SGCE):c.826-2A>G	rs1554343985
NM_003919.3(SGCE):c.865_866insGCAGGAAGTGA (p.Ile289delinsSerArgLysTer)	rs2116695697

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