List of variants reported as pathogenic for Joubert syndrome with renal defect

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Total variants: 15

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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.1716+1G>T	rs1233478832	0.00001
2q13 deletion
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)
NC_000002.12:g.110069919_110205214del
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs)	rs1017750255
NM_001128178.3(NPHP1):c.555del (p.Lys185fs)	rs766524637
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)	rs766524637
NM_001128178.3(NPHP1):c.625-2A>G
NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter)

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