List of variants in gene NBEAL1 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001378026.1(NBEAL1):c.6961C>G (p.Gln2321Glu)	rs114408639	0.00514
NM_001378026.1(NBEAL1):c.414A>G (p.Glu138=)	rs146121994	0.00509
NM_001378026.1(NBEAL1):c.2574T>G (p.Leu858=)	rs757481460	0.00022
NM_001378026.1(NBEAL1):c.7911C>T (p.Phe2637=)	rs201425127	0.00015
NM_001378026.1(NBEAL1):c.6327T>C (p.Tyr2109=)	rs1013940229	0.00001
NM_001378026.1(NBEAL1):c.147A>G (p.Val49=)	rs2469477467
NM_001378026.1(NBEAL1):c.6228G>A (p.Ser2076=)	rs199575214

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