ClinVar Miner

List of variants in gene CC2D2A reported as uncertain significance for Meckel syndrome, type 6; Joubert syndrome 9

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001378615.1(CC2D2A):c.4238G>A (p.Cys1413Tyr)	rs146843542	0.00007
NM_001378615.1(CC2D2A):c.4088G>T (p.Gly1363Val)	rs762683334

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