ClinVar Miner

Variants in gene TCTN2 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_024809.5(TCTN2):c.1099+19T>C rs7137946 0.50815
NM_024809.5(TCTN2):c.891+22T>C rs7302449 0.50676
NM_024809.5(TCTN2):c.891+7G>A rs7313032 0.42667
NM_024809.5(TCTN2):c.765-43A>T rs7298831 0.42250
NM_024809.5(TCTN2):c.1235-28A>G rs12831081 0.36516
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153 0.05717
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301 0.05714
NM_024809.5(TCTN2):c.83-4C>T rs73416299 0.05712
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131 0.01030
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556 0.00376
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547 0.00373
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437 0.00188
NM_024809.5(TCTN2):c.1643C>T (p.Pro548Leu) rs199931630 0.00027
NM_024809.5(TCTN2):c.764+28G>C rs73418148

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