ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 6

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Total variants: 10
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HGVS dbSNP
NM_001142301.1(TMEM67):c.1332+5G>A rs1554555063
NM_001142301.1(TMEM67):c.2079+2dup rs386834192
NM_001142301.1(TMEM67):c.2079+5del rs863225240
NM_001142301.1(TMEM67):c.2418+5G>A rs863225239
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met) rs771551765
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn) rs797046045
NM_153704.6(TMEM67):c.313-3T>G rs1586336362
NM_153704.6(TMEM67):c.406G>C (p.Val136Leu)

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