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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