ClinVar Miner

List of variants reported as uncertain significance for Meckel syndrome, type 8; Joubert syndrome 24

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met)	rs145374149	0.00124
NM_024809.5(TCTN2):c.259C>T (p.Pro87Ser)	rs138562955	0.00005
NM_024809.5(TCTN2):c.1579G>A (p.Ala527Thr)	rs760206821

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