List of variants in gene NPHP1 reported as pathogenic by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)	rs121907899	0.00013
NM_001128178.3(NPHP1):c.329+1G>A	rs376974221	0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)	rs1349732291	0.00001
NM_001128178.3(NPHP1):c.1016dup (p.Leu340fs)	rs398123285
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)	rs1017750255
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)	rs766524637

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