ClinVar Miner

List of variants in gene CPLANE1 studied for Joubert syndrome 1

Included ClinVar conditions (11):
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Gene type:
ClinVar version:
Total variants: 21
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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.1270C>T (p.Arg424Ter) rs755097302 0.00004
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_001384732.1(CPLANE1):c.3104G>C (p.Gly1035Ala) rs1019442092 0.00001
NM_001384732.1(CPLANE1):c.792T>C (p.Asp264=) rs886060585 0.00001
NM_001384732.1(CPLANE1):c.8830G>C (p.Asp2944His) rs761880579 0.00001
NM_001384732.1(CPLANE1):c.9017+1G>A rs863225154 0.00001
NM_001384732.1(CPLANE1):c.1394del (p.Leu465fs) rs1280425167
NM_001384732.1(CPLANE1):c.1554A>T (p.Arg518Ser) rs886060583
NM_001384732.1(CPLANE1):c.1985dup (p.Leu663fs) rs2150435584
NM_001384732.1(CPLANE1):c.2278C>T (p.Gln760Ter) rs762334514
NM_001384732.1(CPLANE1):c.2898del (p.Pro968fs) rs1305821156
NM_001384732.1(CPLANE1):c.3094_3095del (p.Val1032fs)
NM_001384732.1(CPLANE1):c.4190-10_4190-9del rs111508546
NM_001384732.1(CPLANE1):c.5738-2A>G rs565629362
NM_001384732.1(CPLANE1):c.7438dup (p.Arg2480fs) rs886060575
NM_001384732.1(CPLANE1):c.7588+3A>G
NM_001384732.1(CPLANE1):c.7691-5_7691-4del rs1775783657
NM_001384732.1(CPLANE1):c.8633-3del rs34646696
NM_001384732.1(CPLANE1):c.8663+8_8663+12del rs763664569
NM_001384732.1(CPLANE1):c.9063C>A (p.Tyr3021Ter) rs377142277

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