List of variants in gene NPHP4 reported as pathogenic for Nephronophthisis 4

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter)	rs137852923	0.00003
NM_015102.5(NPHP4):c.3325C>T (p.Arg1109Ter)	rs758275952	0.00003
NM_015102.5(NPHP4):c.3272del (p.Val1091fs)	rs1278089386	0.00002
NM_015102.5(NPHP4):c.2044C>T (p.Arg682Ter)	rs137852920	0.00001
NM_015102.5(NPHP4):c.1336C>T (p.Gln446Ter)
NM_015102.5(NPHP4):c.1956-2A>C	rs1271993311
NM_015102.5(NPHP4):c.2304+1G>A	rs757412845
NM_015102.5(NPHP4):c.2368G>T (p.Glu790Ter)	rs137852918
NM_015102.5(NPHP4):c.2377C>T (p.Gln793Ter)	rs137852919
NM_015102.5(NPHP4):c.2972T>C (p.Phe991Ser)	rs28940891
NM_015102.5(NPHP4):c.517+1G>A	rs1419875412
NM_015102.5(NPHP4):c.517C>T (p.Gln173Ter)	rs997408852
NM_015102.5(NPHP4):c.518-1G>C	rs1650418400
NM_015102.5(NPHP4):c.750dup (p.Ser251fs)	rs754862360
NM_015102.5(NPHP4):c.834_841del (p.Ala279fs)	rs781558715

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