List of variants in gene SCN9A reported as pathogenic for brain disorder

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001365536.1(SCN9A):c.640C>T (p.Arg214Ter)	rs377543079	0.00002
NC_000002.11:g.(?_167055172)_(167060984_?)del
NC_000002.11:g.(?_167055182)_(167056394_?)del
NC_000002.11:g.(?_167083057)_(167099186_?)del
NC_000002.11:g.(?_167085181)_(167168266_?)del
NM_001365536.1(SCN9A):c.102del (p.Glu34fs)
NM_001365536.1(SCN9A):c.116del (p.Lys39fs)	rs2105226927
NM_001365536.1(SCN9A):c.133G>T (p.Glu45Ter)	rs1553498017
NM_001365536.1(SCN9A):c.363del (p.Ile122fs)	rs1698779595
NM_001365536.1(SCN9A):c.381dup (p.Phe128fs)
NM_001365536.1(SCN9A):c.500C>A (p.Ser167Ter)
NM_001365536.1(SCN9A):c.531T>A (p.Cys177Ter)
NM_001365536.1(SCN9A):c.570G>A (p.Trp190Ter)	rs1553496156
NM_001365536.1(SCN9A):c.611_612dup (p.Val205fs)	rs1574903287
NM_001365536.1(SCN9A):c.701T>C (p.Ile234Thr)	rs1698638581
NM_001365536.1(SCN9A):c.759_760del (p.Phe254fs)	rs1559027674
NM_001365536.1(SCN9A):c.829C>T (p.Arg277Ter)	rs121908916

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