ClinVar Miner

List of variants in gene NUP133 studied for Galloway-Mowat syndrome

Included ClinVar conditions (13):

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_018230.3(NUP133):c.1263C>T (p.Asn421=)	rs34971259	0.01665
NM_018230.3(NUP133):c.2992dup (p.Gln998fs)	rs1660478193
NM_018230.3(NUP133):c.3335-11T>A	rs1433513056

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