List of variants in gene NPHP1 reported as likely benign for Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001128178.3(NPHP1):c.836C>T (p.Thr279Met)	rs200201945	0.00033
NM_001128178.3(NPHP1):c.1524A>G (p.Val508=)	rs146220435	0.00009
NM_001128178.3(NPHP1):c.69+20A>G	rs199941495	0.00006
NM_001128178.3(NPHP1):c.558T>G (p.Pro186=)	rs372637635	0.00005
NM_001128178.3(NPHP1):c.1353-9C>A	rs376436841	0.00004
NM_001128178.3(NPHP1):c.772-11A>T	rs189649819	0.00004
NM_001128178.3(NPHP1):c.1722G>A (p.Ser574=)	rs778531895	0.00003
NM_001128178.3(NPHP1):c.1434C>T (p.His478=)	rs148809478	0.00002
NM_001128178.3(NPHP1):c.771+78G>A	rs762350912	0.00001
NM_001128178.3(NPHP1):c.1270-12C>T	rs772635725
NM_001128178.3(NPHP1):c.1530-4del	rs757295724
NM_001128178.3(NPHP1):c.859+8G>C	rs765856771

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