List of variants reported as likely pathogenic for Joubert syndrome 6

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)	rs267607119	0.00009
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)	rs386834180	0.00004
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met)	rs771551765	0.00004
NM_153704.6(TMEM67):c.1353del (p.Glu452fs)	rs749435317	0.00001
NM_153704.6(TMEM67):c.2322+2dup	rs386834192	0.00001
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn)	rs797046045	0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val)	rs863225227	0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)	rs769957689	0.00001
NC_000008.10:g.(94807736_94808128)_(94809699_94811845)del
NM_153704.6(TMEM67):c.1575+5G>A	rs1554555063
NM_153704.6(TMEM67):c.1771A>G (p.Lys591Glu)
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe)	rs863225238
NM_153704.6(TMEM67):c.2322+5del	rs863225240
NM_153704.6(TMEM67):c.2661+5G>A	rs863225239
NM_153704.6(TMEM67):c.313-3T>G	rs1586336362
NM_153704.6(TMEM67):c.406G>C (p.Val136Leu)	rs1812685381
NM_153704.6(TMEM67):c.475T>C (p.Ser159Pro)	rs775716868
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs)	rs868404889

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