ClinVar Miner

List of variants in gene CPLANE1 studied for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 14
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NM_023073.3(CPLANE1):c.1394del (p.Leu465fs) rs1280425167
NM_023073.3(CPLANE1):c.1554A>T (p.Arg518Ser) rs886060583
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.2278C>T (p.Gln760Ter) rs762334514
NM_023073.3(CPLANE1):c.2898del (p.Pro968fs) rs1305821156
NM_023073.3(CPLANE1):c.3104G>C (p.Gly1035Ala) rs1019442092
NM_023073.3(CPLANE1):c.4190-10_4190-9del rs111508546
NM_023073.3(CPLANE1):c.5738-2A>G rs565629362
NM_023073.3(CPLANE1):c.7438dup (p.Arg2480fs) rs886060575
NM_023073.3(CPLANE1):c.792T>C (p.Asp264=) rs886060585
NM_023073.3(CPLANE1):c.8471-3del rs34646696
NM_023073.3(CPLANE1):c.8501+8_8501+12del rs763664569
NM_023073.3(CPLANE1):c.8668G>C (p.Asp2890His) rs761880579
NM_023073.3(CPLANE1):c.8855+1G>A rs863225154

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