List of variants in gene NPHP1 reported as pathogenic for ciliopathy

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)	rs121907899	0.00013
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)	rs547352656	0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)	rs765263671	0.00002
NM_001128178.3(NPHP1):c.1270-1G>A	rs376492641	0.00001
NM_001128178.3(NPHP1):c.1352+1del	rs747861275	0.00001
NM_001128178.3(NPHP1):c.1716+1G>T	rs1233478832	0.00001
GRCh37/hg19 2q13(chr2:110875689-110967529)
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)
NM_000272.5:c.(?_-1)_(*1_?)del
NM_001128178.3(NPHP1):c.1361_1362del (p.Glu454fs)	rs1553484094
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)	rs1017750255
NM_001128178.3(NPHP1):c.480dup (p.Gly161fs)
NM_001128178.3(NPHP1):c.555del (p.Lys185fs)	rs766524637
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)	rs766524637
NM_001128178.3(NPHP1):c.625-1G>A
NM_001128178.3(NPHP1):c.625-2A>G
NM_001128178.3(NPHP1):c.80T>A (p.Leu27Ter)	rs121907898
NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter)

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