ClinVar Miner

List of variants studied for Joubert syndrome 6 by Broad Institute Rare Disease Group,Broad Institute

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Total variants: 8
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HGVS dbSNP
NM_001142301.1(TMEM67):c.1332+5G>A rs1554555063
NM_153704.6(TMEM67):c.1421T>C (p.Leu474Pro) rs1554554236
NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser) rs267607116
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119
NM_153704.6(TMEM67):c.2779T>C (p.Phe927Leu) rs1554561389
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met) rs771551765
NM_153704.6(TMEM67):c.628T>C (p.Ser210Pro) rs771718467
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520

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