List of variants in gene ALG1 reported 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
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_019109.5(ALG1):c.1080G>A (p.Ala360=)	rs143939207	0.00467
NM_019109.5(ALG1):c.1092C>G (p.Val364=)	rs113602091	0.00221
NM_019109.5(ALG1):c.8C>A (p.Ala3Asp)	rs559805054	0.00096
NM_019109.5(ALG1):c.22C>T (p.Leu8=)	rs144712188	0.00001
GRCh37/hg19 16p13.3(chr16:5127446-5129808)x1
NM_019109.5(ALG1):c.1025A>C (p.Gln342Pro)	rs267606651
NM_019109.5(ALG1):c.1145T>C (p.Met382Thr)	rs1596261268
NM_019109.5(ALG1):c.502C>T (p.His168Tyr)	rs746403265
NM_019109.5(ALG1):c.781A>G (p.Thr261Ala)	rs377260474
NM_019109.5(ALG1):c.839_860dup (p.Glu288fs)	rs2142716129

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