List of variants in gene ALG13 reported as uncertain significance by Eurofins Ntd Llc (ga)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr)	rs190790872	0.00027
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg)	rs372521943	0.00001
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=)	rs746842727	0.00001
NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp)	rs886042566	0.00001
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del)	rs750710267
NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup)	rs750710267

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