List of variants in gene PEX26 reported as likely pathogenic for central nervous system disorder

Minimum submission review status:		Collection method:
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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: 20

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HGVS	dbSNP	gnomAD frequency
NM_001127649.3(PEX26):c.667+2T>C	rs267608191	0.00001
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)	rs61752132
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter)	rs1556586479
NM_001127649.3(PEX26):c.228C>T (p.Gly76=)	rs786205556
NM_001127649.3(PEX26):c.256T>C (p.Cys86Arg)
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)	rs28940308
NM_001127649.3(PEX26):c.330C>G (p.Tyr110Ter)
NM_001127649.3(PEX26):c.349C>A (p.Pro117Thr)	rs2123647622
NM_001127649.3(PEX26):c.350C>T (p.Pro117Leu)
NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg)	rs61752135
NM_001127649.3(PEX26):c.354del (p.Val120fs)	rs1926487809
NM_001127649.3(PEX26):c.361_362del (p.Leu121fs)
NM_001127649.3(PEX26):c.372-2A>G
NM_001127649.3(PEX26):c.379_380delinsGA (p.Leu127Glu)
NM_001127649.3(PEX26):c.394C>T (p.Gln132Ter)
NM_001127649.3(PEX26):c.468T>A (p.Tyr156Ter)
NM_001127649.3(PEX26):c.668-2A>G	rs2123657331
NM_001127649.3(PEX26):c.71del (p.Pro24fs)
NM_001127649.3(PEX26):c.789_798del (p.Cys263fs)	rs1926794975
NM_001127649.3(PEX26):c.814+1G>A

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