List of variants studied for Joubert syndrome 1 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)	rs146824138	0.00071
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	rs201893408	0.00009
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys)	rs375909217	0.00002
NM_019892.6(INPP5E):c.1666-12A>G	rs372545147	0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	rs752362727	0.00002
NM_019892.6(INPP5E):c.1312G>C (p.Asp438His)	rs1835733198
NM_019892.6(INPP5E):c.1897C>T (p.Gln633Ter)	rs763184652
NM_025114.4(CEP290):c.3104-2A>G	rs773386777
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)	rs386834158
NM_206933.4(USH2A):c.14027A>G (p.Gln4676Arg)	rs397517987

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