List of variants in gene ALG13 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_001099922.3(ALG13):c.371A>G (p.Tyr124Cys)	rs145518377	0.00035
NM_001099922.3(ALG13):c.2372G>A (p.Arg791Gln)	rs374290658	0.00001
NM_001099922.3(ALG13):c.2974-5T>C	rs776113182	0.00001
NM_001099922.3(ALG13):c.1228T>C (p.Tyr410His)
NM_001099922.3(ALG13):c.128G>A (p.Arg43Lys)	rs1057519175
NM_001099922.3(ALG13):c.1883A>G (p.His628Arg)
NM_001099922.3(ALG13):c.2008A>G (p.Met670Val)
NM_001099922.3(ALG13):c.2143T>C (p.Tyr715His)
NM_001099922.3(ALG13):c.2291A>G (p.Tyr764Cys)
NM_001099922.3(ALG13):c.2352T>A (p.Asn784Lys)	rs1602753116
NM_001099922.3(ALG13):c.912A>C (p.Arg304Ser)

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