ClinVar Miner

List of variants in gene TCTN3 studied for auditory system disease

Included ClinVar conditions (549):
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Gene type:
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Total variants: 53
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HGVS dbSNP
NM_015631.6(TCTN3):c.1013A>G (p.Lys338Arg)
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838
NM_015631.6(TCTN3):c.1059C>T (p.Gly353=)
NM_015631.6(TCTN3):c.1096-14C>A rs41291568
NM_015631.6(TCTN3):c.1164G>A (p.Gly388=)
NM_015631.6(TCTN3):c.1177G>A (p.Ala393Thr)
NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn) rs768285987
NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly) rs200705429
NM_015631.6(TCTN3):c.1278A>G (p.Ala426=)
NM_015631.6(TCTN3):c.1299-3T>C
NM_015631.6(TCTN3):c.1317C>T (p.Cys439=) rs34474203
NM_015631.6(TCTN3):c.1327C>T (p.Gln443Ter) rs387907273
NM_015631.6(TCTN3):c.1348_1349del (p.Leu450fs) rs768525869
NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs) rs1589613893
NM_015631.6(TCTN3):c.1425G>A (p.Arg475=) rs144543830
NM_015631.6(TCTN3):c.153A>G (p.Ser51=) rs937027387
NM_015631.6(TCTN3):c.1569A>G (p.Leu523=) rs201367852
NM_015631.6(TCTN3):c.1575G>A (p.Gln525=) rs768137956
NM_015631.6(TCTN3):c.1591-4G>A
NM_015631.6(TCTN3):c.1591-5C>T rs181107730
NM_015631.6(TCTN3):c.1741G>C (p.Val581Leu)
NM_015631.6(TCTN3):c.1760C>A (p.Ser587Ter)
NM_015631.6(TCTN3):c.1764C>T (p.Val588=) rs137856303
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro) rs11553577
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu) rs138495428
NM_015631.6(TCTN3):c.21G>A (p.Ala7=) rs61737888
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570
NM_015631.6(TCTN3):c.256+2_256+7del
NM_015631.6(TCTN3):c.257-1G>A rs1589623689
NM_015631.6(TCTN3):c.280T>C (p.Leu94=) rs367982164
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro) rs749447795
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122
NM_015631.6(TCTN3):c.499+5G>T
NM_015631.6(TCTN3):c.500-11A>T rs11188434
NM_015631.6(TCTN3):c.500-6T>C rs201444392
NM_015631.6(TCTN3):c.566_567del (p.Glu189fs) rs793888507
NM_015631.6(TCTN3):c.603T>A (p.Thr201=) rs10786229
NM_015631.6(TCTN3):c.606A>G (p.Gln202=)
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157
NM_015631.6(TCTN3):c.728A>G (p.Asn243Ser) rs1555270274
NM_015631.6(TCTN3):c.730C>G (p.Pro244Ala)
NM_015631.6(TCTN3):c.769C>T (p.Arg257Cys)
NM_015631.6(TCTN3):c.818A>G (p.Asn273Ser) rs762720849
NM_015631.6(TCTN3):c.877C>T (p.Gln293Ter) rs764091969
NM_015631.6(TCTN3):c.883A>G (p.Met295Val)
NM_015631.6(TCTN3):c.889-8G>A rs374331871
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser) rs55859130
NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg) rs793888508
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) rs200042949
NM_015631.6(TCTN3):c.959T>C (p.Val320Ala) rs546805063
NM_015631.6(TCTN3):c.9C>A (p.Thr3=) rs1471002377
Q480*
TCTN3, 4-BP DEL, NT650

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