ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 17 by UW Hindbrain Malformation Research Program, University of Washington

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) rs374144275 0.00019
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572 0.00006
NM_001384732.1(CPLANE1):c.2377C>T (p.Gln793Ter) rs776886962 0.00006
NM_001384732.1(CPLANE1):c.2831G>A (p.Arg944His) rs863225165 0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596 0.00006
NM_001384732.1(CPLANE1):c.2353C>T (p.Arg785Ter) rs863225163 0.00004
NM_001384732.1(CPLANE1):c.2611C>T (p.Arg871Cys) rs760906097 0.00004
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter) rs141507441 0.00004
NM_001384732.1(CPLANE1):c.2923C>T (p.Gln975Ter) rs863225166 0.00003
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met) rs373704405 0.00003
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter) rs147416429 0.00002
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122 0.00002
NM_001384732.1(CPLANE1):c.2999G>T (p.Trp1000Leu) rs773362418 0.00001
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755 0.00001
NM_001384732.1(CPLANE1):c.817A>C (p.Asn273His) rs863225167 0.00001
NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs) rs1554064102 0.00001
NM_001384732.1(CPLANE1):c.8770G>T (p.Glu2924Ter) rs863225155 0.00001
NM_001384732.1(CPLANE1):c.9017+1G>A rs863225154 0.00001
NM_003611.3(OFD1):c.149A>G (p.His50Arg) rs863225213 0.00001
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.2275C>T (p.Gln759Ter) rs863225158
NM_001384732.1(CPLANE1):c.2709G>A (p.Trp903Ter) rs863225164
NM_001384732.1(CPLANE1):c.3007G>T (p.Glu1003Ter) rs863225162
NM_001384732.1(CPLANE1):c.3130_3131insA (p.Arg1044fs) rs863225161
NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_001384732.1(CPLANE1):c.3636_3637del (p.Leu1213fs) rs863225157
NM_001384732.1(CPLANE1):c.510del (p.Leu171fs) rs779680371
NM_001384732.1(CPLANE1):c.510dup (p.Leu171fs) rs779680371
NM_001384732.1(CPLANE1):c.6269_6270del (p.Val2090fs) rs768675259
NM_001384732.1(CPLANE1):c.7190del (p.Pro2397fs) rs863225156
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter) rs863225159
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs) rs730882217
NM_001384732.1(CPLANE1):c.8329C>T (p.Gln2777Ter) rs863225152
NM_001384732.1(CPLANE1):c.8425dup (p.Thr2809fs) rs775263897
NM_001384732.1(CPLANE1):c.8878G>T (p.Glu2960Ter) rs863225153
NM_001384732.1(CPLANE1):c.8887del (p.Ala2963fs) rs770758833
NM_001384732.1(CPLANE1):c.9017+1G>T rs863225154
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003611.3(OFD1):c.2767del (p.Glu923fs) rs312262894
NM_003611.3(OFD1):c.277G>T (p.Val93Phe) rs863225211

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