ClinVar Miner

List of variants in gene TCTN2 studied for Joubert syndrome 24

Included ClinVar conditions (2):
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Gene type:
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Total variants: 5
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NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682
NM_024809.5(TCTN2):c.1235-1G>A rs863225425
NM_024809.5(TCTN2):c.1873C>T (p.Gln625Ter) rs863225426
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149
NM_024809.5(TCTN2):c.76dup (p.Asp26fs) rs863225222

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