ClinVar Miner

List of variants in gene TCTN1 studied for Meckel syndrome, type 1

Included ClinVar conditions (6):
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_001082538.3(TCTN1):c.1095T>C (p.His365=) rs767963074
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.3(TCTN1):c.1291G>C (p.Val431Leu) rs188817098
NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr) rs190390987
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349
NM_001082538.3(TCTN1):c.1522C>T (p.Leu508Phe) rs1016934113
NM_001082538.3(TCTN1):c.232T>C (p.Cys78Arg) rs1565956183
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met) rs145478892
NM_001082538.3(TCTN1):c.305T>G (p.Phe102Cys)
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455
NM_001082538.3(TCTN1):c.473-10T>A rs12307716
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500
NM_001082538.3(TCTN1):c.570A>G (p.Glu190=) rs199584658
NM_001082538.3(TCTN1):c.699_701TAA[1] (p.Asn235del) rs797046038
NM_001082538.3(TCTN1):c.705C>T (p.Asn235=) rs752181429
NM_001082538.3(TCTN1):c.713-9G>T rs201293727
NM_001082538.3(TCTN1):c.846C>G (p.Val282=) rs368536784
NM_001082538.3(TCTN1):c.890C>T (p.Thr297Met) rs200460700
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=) rs16940927
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) rs145970332

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