ClinVar Miner

List of variants in gene TCTN3 studied for Joubert syndrome

Included ClinVar conditions (58):
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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_015631.6(TCTN3):c.1196G>A (p.Ser399Asn)
NM_015631.6(TCTN3):c.1271T>G (p.Val424Gly) rs200705429
NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs)
NM_015631.6(TCTN3):c.1425G>A (p.Arg475=) rs144543830
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu) rs138495428
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122
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.818A>G (p.Asn273Ser)
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.9C>A (p.Thr3=) rs1471002377

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