ClinVar Miner

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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