List of variants in gene NPHP1 studied for Retinal dystrophy

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)	rs114250691	0.00121
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)	rs141763330	0.00039
NM_001128178.3(NPHP1):c.771+2C>T	rs189320299	0.00020
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)	rs121907899	0.00012
NM_001128178.3(NPHP1):c.1531C>T (p.Leu511=)	rs567306113	0.00004
NM_000272.5:c.(1251+1_1252-1)_(1437+1_1438-1)del
NM_001128178.3(NPHP1):c.341C>G (p.Pro114Arg)
NM_001128178.3(NPHP1):c.678A>C (p.Glu226Asp)	rs947765689
NM_001128178.3(NPHP1):c.790G>A (p.Val264Met)	rs1559074346
NM_001128178.3(NPHP1):c.978T>G (p.Ile326Met)

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