ClinVar Miner

List of variants in gene LOC126806306, NPHP1 studied for nephronophthisis 1

Included ClinVar conditions (3):

Joubert syndrome with renal defect; Nephronophthisis 1; Senior-Loken syndrome 1
Nephronophthisis 1
Nephronophthisis 1; Senior-loken syndrome 3

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: 3

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HGVS	dbSNP	gnomAD frequency
GRCh38/hg38 2q13(chr2:110123182-110205164)x0
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
NM_001128178.3(NPHP1):c.1084-1G>T	rs1458494785

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