ClinVar Miner

List of variants in gene TCTN3 reported as pathogenic for ciliopathy

Included ClinVar conditions (273):
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_015631.6(TCTN3):c.1327C>T (p.Gln443Ter) rs387907273 0.00004
NM_015631.6(TCTN3):c.1520dup (p.Gly508fs) rs755903123 0.00004
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter) rs764091969 0.00001
NM_015631.6(TCTN3):c.940G>T (p.Gly314Ter) rs793888508 0.00001
NM_015631.6(TCTN3):c.1068dup (p.Gln357fs)
NM_015631.6(TCTN3):c.1164dup (p.Lys389fs)
NM_015631.6(TCTN3):c.1206dup (p.Thr403fs)
NM_015631.6(TCTN3):c.1226del (p.Gly409fs)
NM_015631.6(TCTN3):c.1348_1349del (p.Leu450fs) rs768525869
NM_015631.6(TCTN3):c.1367_1370dup (p.Glu457fs)
NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs) rs1589613893
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer) rs553175533
NM_015631.6(TCTN3):c.338_341del (p.His113fs) rs761798713
NM_015631.6(TCTN3):c.371_372del (p.Gly124fs)
NM_015631.6(TCTN3):c.412_413del (p.Val138fs)
NM_015631.6(TCTN3):c.650_653del (p.Tyr217fs) rs749018985
NM_015631.6(TCTN3):c.710del (p.Gly237fs) rs779729881
NM_015631.6(TCTN3):c.717_718del (p.Cys239_Ala240insTer) rs1276774121
NM_015631.6(TCTN3):c.737_738insC (p.Leu248fs)
NM_015631.6(TCTN3):c.754del (p.Ser252fs) rs2139749042
NM_015631.6(TCTN3):c.776dup (p.Lys260fs)
NM_015631.6(TCTN3):c.793dup (p.Ser265fs)
NM_015631.6(TCTN3):c.851dup (p.Val285fs)
NM_015631.6(TCTN3):c.908_911del (p.Leu303fs) rs2139744863
NM_015631.6(TCTN3):c.910dup (p.Thr304fs)
NM_015631.6(TCTN3):c.920_941del (p.Ala307fs)
NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg) rs793888508

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