ClinVar Miner

List of variants in gene combination NPHP3, NPHP3-ACAD11 reported by Neuberg Centre For Genomic Medicine, NCGM

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_153240.5(NPHP3):c.2694-2_2694-1del	rs751527253	0.00026
NM_153240.5(NPHP3):c.3466G>T (p.Glu1156Ter)	rs2530380429	0.00001
NM_153240.5(NPHP3):c.2692A>G (p.Arg898Gly)	rs1560003115
NM_153240.5(NPHP3):c.823+3A>G

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