ClinVar Miner

List of variants in gene RUVBL1, SEC61A1 studied for SEC61A1 deficiency

Included ClinVar conditions (3):

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_013336.4(SEC61A1):c.784C>A (p.Arg262=)	rs144643278	0.00086
NM_013336.4(SEC61A1):c.1075G>A (p.Val359Ile)
NM_013336.4(SEC61A1):c.1141G>T (p.Glu381Ter)
NM_013336.4(SEC61A1):c.806C>T (p.Ser269Leu)

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