List of variants in gene SNX27 reported as pathogenic for Severe myoclonic epilepsy in infancy

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001330723.2(SNX27):c.1426C>T (p.Arg476Ter)	rs1346732190	0.00001
NM_001330723.2(SNX27):c.703C>T (p.Arg235Ter)	rs770358039	0.00001
NM_001330723.2(SNX27):c.1072C>T (p.Arg358Ter)
NM_001330723.2(SNX27):c.1216_1217dup (p.Glu407fs)	rs2102724265
NM_001330723.2(SNX27):c.1218C>G (p.Tyr406Ter)	rs201966711
NM_001330723.2(SNX27):c.1356dup (p.Leu453fs)	rs1553266166
NM_001330723.2(SNX27):c.1431G>A (p.Trp477Ter)	rs574654968
NM_001330723.2(SNX27):c.1474C>T (p.Arg492Ter)
NM_001330723.2(SNX27):c.1492C>T (p.Arg498Ter)
NM_001330723.2(SNX27):c.265dup (p.Ala89fs)	rs781657502
NM_001330723.2(SNX27):c.556del (p.Tyr186fs)
NM_001330723.2(SNX27):c.629_630del (p.Glu210fs)	rs1669791515
NM_001330723.2(SNX27):c.652C>T (p.Arg218Ter)	rs2102676931
NM_001330723.2(SNX27):c.873del (p.Lys293fs)	rs1669994959
NM_001330723.2(SNX27):c.977dup (p.His326fs)	rs2102690228

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