List of variants in gene ALG8 reported as pathogenic for digestive system 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_024079.5(ALG8):c.1038+1G>T	rs202112771	0.00016
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)	rs376161880	0.00010
NM_024079.5(ALG8):c.685C>T (p.Arg229Ter)	rs533704173	0.00004
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter)	rs762811727	0.00003
NM_024079.5(ALG8):c.981dup (p.Val328fs)	rs777686455	0.00001
NM_024079.5(ALG8):c.139A>C (p.Thr47Pro)	rs121908293
NM_024079.5(ALG8):c.1501del (p.Ala500_Val501insTer)
NM_024079.5(ALG8):c.160C>T (p.Gln54Ter)
NM_024079.5(ALG8):c.272del (p.Asn91fs)
NM_024079.5(ALG8):c.371del (p.Cys124fs)

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