ClinVar Miner

List of variants reported as benign for Joubert syndrome 17

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99994
NM_015631.6(TCTN3):c.603T>A (p.Thr201=) rs10786229 0.35079
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
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_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911 0.17594
NM_001384732.1(CPLANE1):c.5901-3T>C rs10805625 0.15103
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774 0.10422
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro) rs11553577 0.10199
NM_001384732.1(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652 0.04935
NM_001384732.1(CPLANE1):c.378G>A (p.Gly126=) rs73750958 0.03087
NM_001384732.1(CPLANE1):c.5343A>T (p.Thr1781=) rs73750949 0.02942
NM_001384732.1(CPLANE1):c.94G>A (p.Val32Ile) rs73750959 0.02866
NM_001384732.1(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147 0.02316
NM_001384732.1(CPLANE1):c.9346G>A (p.Gly3116Arg) rs7702892 0.02310
NM_001384732.1(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518 0.02308
NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758 0.02238
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=) rs115435816 0.01890
NM_001384732.1(CPLANE1):c.*889A>G rs75549748 0.01830
NM_001384732.1(CPLANE1):c.5900+7G>T rs78315844 0.01816
NM_001384732.1(CPLANE1):c.*641C>T rs116744214 0.01809
NM_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173 0.01809
NM_001384732.1(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186 0.01627
NM_001384732.1(CPLANE1):c.3795T>A (p.Val1265=) rs74478954 0.01626
NM_001384732.1(CPLANE1):c.3240C>T (p.Ala1080=) rs28514632 0.01487
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=) rs61745362 0.01450
NM_001384732.1(CPLANE1):c.1737G>A (p.Ala579=) rs13356183 0.01427
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser) rs55859130 0.01420
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_001384732.1(CPLANE1):c.8664-3A>T rs58401892 0.01389
NM_001384732.1(CPLANE1):c.4310T>C (p.Ile1437Thr) rs6859950 0.01291
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028 0.00635
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157 0.00543
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838 0.00423
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570 0.00421
NM_002601.4(PDE6D):c.371+8A>C rs75242814 0.00367
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=) rs16903511 0.00353
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=) rs16903514 0.00352
NM_015631.6(TCTN3):c.21G>A (p.Ala7=) rs61737888 0.00320
NM_001384732.1(CPLANE1):c.765A>C (p.Gly255=) rs117995360 0.00189
NM_001384732.1(CPLANE1):c.8374-15G>A rs74881219 0.00111
NM_015631.6(TCTN3):c.1591-5C>T rs181107730 0.00109
NM_015631.6(TCTN3):c.500-6T>C rs201444392 0.00076
NM_001384732.1(CPLANE1):c.6860G>A (p.Ser2287Asn) rs147451628 0.00039
NM_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val) rs191239995 0.00036
NM_001384732.1(CPLANE1):c.5820+7C>T rs185534019 0.00031
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_003611.3(OFD1):c.2117C>T (p.Thr706Ile) rs773224811 0.00001
NM_015631.6(TCTN3):c.324C>T (p.Asp108=) rs566756038 0.00001
NM_001384732.1(CPLANE1):c.*441A>C rs7712558
NM_001384732.1(CPLANE1):c.2746+16del rs751625561
NM_003611.3(OFD1):c.1412-11del rs36052228
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu) rs138495428

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