ClinVar Miner

List of variants in gene NPHP1 studied for Joubert syndrome 1

Included ClinVar conditions (11):

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
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)	rs190983114	0.00366
NM_001128178.3(NPHP1):c.*333AAC[1]	rs555468187
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup)	rs777677768

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