List of variants studied for Joubert syndrome and related disorders by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001077418.3(TMEM231):c.665-11T>C	rs886039807
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His)	rs764109067
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs)	rs886039809
NM_015681.6(B9D1):c.209T>C (p.Ile70Thr)	rs886039811
NM_025114.4(CEP290):c.4811G>A (p.Trp1604Ter)	rs886039808
NM_033402.5(LRRCC1):c.105-1G>C	rs886039794
NM_153704.6(TMEM67):c.2707G>C (p.Glu903Gln)	rs886039810

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