ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome 6 by UW Hindbrain Malformation Research Program,University of Washington

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Total variants: 5

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HGVS	dbSNP
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.297G>T (p.Lys99Asn)	rs797046045

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