List of variants reported as pathogenic for Senior-Loken syndrome 1

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)	rs121907899	0.00012
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)	rs547352656	0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter)	rs765263671	0.00002
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)	rs1017750255
NM_001128178.3(NPHP1):c.349G>T (p.Glu117Ter)
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)	rs766524637
NM_001128178.3(NPHP1):c.609dup (p.Arg204fs)
NM_001128178.3(NPHP1):c.735del (p.His247fs)	rs2467370270
NM_001128178.3(NPHP1):c.84_87del (p.Ser29fs)	rs1388373598

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