ClinVar Miner

List of variants reported as likely pathogenic for Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)	rs781252161	0.00001
NM_001378615.1(CC2D2A):c.3317_3318del (p.Ser1106fs)
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs)	rs386833765

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