ClinVar Miner

List of variants in gene TCTN2 studied for Meckel syndrome, type 8

Included ClinVar conditions (2):
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Gene type:
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Total variants: 9
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NM_024809.5(TCTN2):c.1099+19T>C rs7137946
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867
NM_024809.5(TCTN2):c.134dup (p.Val46fs) rs797046040
NM_024809.5(TCTN2):c.1393+7C>T rs7298440
NM_024809.5(TCTN2):c.1506-2A>G rs374349989
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149
NM_024809.5(TCTN2):c.703del (p.Leu235fs) rs760830696
NM_024809.5(TCTN2):c.891+7G>A rs7313032

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