ClinVar Miner

List of variants in gene TCTN2 reported as pathogenic for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682
NM_024809.5(TCTN2):c.1291G>T (p.Glu431Ter) rs863225221
NM_024809.5(TCTN2):c.1626del (p.Asp543fs) rs863225220
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys) rs201010803
NM_024809.5(TCTN2):c.1877T>A (p.Leu626Ter) rs786204788
NM_024809.5(TCTN2):c.367dup (p.Leu123fs) rs748951253
NM_024809.5(TCTN2):c.524dup (p.Leu175fs) rs760034947
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys) rs201827132
NM_024809.5(TCTN2):c.652_659dup (p.Ala221fs) rs915737037
NM_024809.5(TCTN2):c.76del (p.Asp26fs) rs863225222
NM_024809.5(TCTN2):c.76dup (p.Asp26fs) rs863225222

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