List of variants in gene NPHP3, NPHP3-ACAD11 studied for Joubert syndrome and related disorders

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)	rs267606916	0.00010
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)	rs398124546	0.00002
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter)	rs1007848349	0.00001
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)	rs1456714047
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
NM_153240.5(NPHP3):c.1888-7_1893del	rs1553773296

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