ClinVar Miner

List of variants in gene CPLANE1 studied for Orofaciodigital syndrome type 6

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99994
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168 0.00003
NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter) rs766699868 0.00002
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter) rs147416429 0.00002
NM_001384732.1(CPLANE1):c.1828C>T (p.Gln610Ter) rs1200574734 0.00001
NM_001384732.1(CPLANE1):c.3859G>C (p.Asp1287His) rs606231261 0.00001
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg) rs869312898 0.00001
NM_001384732.1(CPLANE1):c.7588+7A>G rs773662834 0.00001
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755 0.00001
NM_001384732.1(CPLANE1):c.81G>A (p.Lys27=) rs1264949337 0.00001
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.2666C>T (p.Ala889Val) rs2150361119
NM_001384732.1(CPLANE1):c.3150-1G>T rs606231258
NM_001384732.1(CPLANE1):c.3290-2A>G rs606231260
NM_001384732.1(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_001384732.1(CPLANE1):c.3835_3836del (p.Leu1279fs)
NM_001384732.1(CPLANE1):c.4629T>G (p.Phe1543Leu) rs1783222163
NM_001384732.1(CPLANE1):c.586T>C (p.Cys196Arg) rs2150766539
NM_001384732.1(CPLANE1):c.6286C>T (p.Gln2096Ter) rs2150954061
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter) rs863225159
NM_001384732.1(CPLANE1):c.9441dup (p.His3148fs) rs1579740974
NM_001384732.1(CPLANE1):c.994_996del (p.Met332del) rs1797611349

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