ClinVar Miner

List of variants reported as benign for Joubert syndrome 6 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 8
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HGVS dbSNP
NM_001142301.1(TMEM67):c.*852C>T rs114214029
NM_001142301.1(TMEM67):c.-200G>C rs79833026
NM_001142301.1(TMEM67):c.823-3C>T rs3097427
NM_153704.6(TMEM67):c.*19T>C rs55850117
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221

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