List of variants reported as likely pathogenic for Joubert syndrome 6

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Total variants: 6

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HGVS	dbSNP
NM_153704.5(TMEM67):c.1575+5G>A	rs1554555063
NM_153704.5(TMEM67):c.2086C>T (p.Leu696Phe)	rs863225238
NM_153704.5(TMEM67):c.2322+2dupT	rs386834192
NM_153704.5(TMEM67):c.2322+5delG	rs863225240
NM_153704.5(TMEM67):c.2661+5G>A	rs863225239
NM_153704.5(TMEM67):c.297G>T (p.Lys99Asn)	rs797046045

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