ClinVar Miner

List of variants in gene TCTN3 reported as benign for Joubert syndrome 18

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_015631.6(TCTN3):c.603T>A (p.Thr201=) rs10786229 0.35079
NM_015631.6(TCTN3):c.1204-43T>C rs17461546 0.27142
NM_015631.6(TCTN3):c.1453-28A>G rs12784530 0.21461
NM_015631.6(TCTN3):c.500-11A>T rs11188434 0.18618
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser) rs55859130 0.01420
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.1591-5C>T rs181107730 0.00109
NM_015631.6(TCTN3):c.500-6T>C rs201444392 0.00076
NM_015631.6(TCTN3):c.889-8G>A rs374331871 0.00029
NM_015631.6(TCTN3):c.933G>T (p.Leu311=) rs371380545 0.00008
NM_015631.6(TCTN3):c.1278A>G (p.Ala426=) rs184805842 0.00007
NM_015631.6(TCTN3):c.324C>T (p.Asp108=) rs566756038 0.00001

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