List of variants reported as likely pathogenic for Joubert syndrome with oculorenal defect by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001044385.3(TMEM237):c.42+1G>A	rs1378726802	0.00005
NM_001044385.3(TMEM237):c.136+1G>T	rs778823927	0.00001
NM_016464.5(TMEM138):c.128+5G>A	rs917404097	0.00001
NM_001044385.3(TMEM237):c.396-2A>G
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly)	rs2105899169
NM_016464.5(TMEM138):c.300+1G>T

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