ClinVar Miner

List of variants in gene TCTN3 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157 0.00543
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838 0.00423
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) rs200042949 0.00118
NM_015631.6(TCTN3):c.1764C>T (p.Val588=) rs137856303 0.00071
NM_015631.6(TCTN3):c.1425G>A (p.Arg475=) rs144543830 0.00065
NM_015631.6(TCTN3):c.889-8G>A rs374331871 0.00029
NM_015631.6(TCTN3):c.324C>T (p.Asp108=) rs566756038 0.00001
NM_015631.6(TCTN3):c.606A>G (p.Gln202=) rs777642622 0.00001
NM_015631.6(TCTN3):c.1203+69T>C
NM_015631.6(TCTN3):c.1452+4del rs1555269741
NM_015631.6(TCTN3):c.1582_1590+7del rs781327291
NM_015631.6(TCTN3):c.1792C>T (p.Leu598=)
NM_015631.6(TCTN3):c.770G>A (p.Arg257His) rs758733887

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