List of variants in gene NPHP1 reported as likely pathogenic for Nephronophthisis

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001128178.3(NPHP1):c.771+169G>T	rs150520157	0.00027
NM_001128178.3(NPHP1):c.729-2A>G	rs773781058	0.00002
NM_001128178.3(NPHP1):c.143+1G>C	rs745806504	0.00001
NM_001128178.3(NPHP1):c.325_329+7del	rs1683656584	0.00001
NM_001128178.3(NPHP1):c.329+1G>A	rs376974221	0.00001
NM_000272.4:c.(1520+1_1521-1)_(1697+1_1698-1)del
NM_001128178.3(NPHP1):c.1352+2T>C
NM_001128178.3(NPHP1):c.141_143+40del
NM_001128178.3(NPHP1):c.144-1G>A
NM_001128178.3(NPHP1):c.1717-1G>T
NM_001128178.3(NPHP1):c.522+1G>A
NM_001128178.3(NPHP1):c.522+1G>C
NM_001128178.3(NPHP1):c.523-2A>C
NM_001128178.3(NPHP1):c.70-1G>T
NM_001128178.3(NPHP1):c.729-1G>C
NM_001128178.3(NPHP1):c.77_143+140del
NM_001128178.3(NPHP1):c.860-2A>G

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