ClinVar Miner

Variants in gene CPLANE1 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_001384732.1(CPLANE1):c.3676C>T (p.Arg1226Ter) rs749421099 0.00007
NM_001384732.1(CPLANE1):c.1A>G (p.Met1Val) rs891693382 0.00004
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168 0.00003
NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427 0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162 0.00002
NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs) rs1398880084 0.00001
NM_001384732.1(CPLANE1):c.1396C>T (p.Arg466Ter)
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu) rs141153181
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs) rs730882217
NM_001384732.1(CPLANE1):c.8959-2A>G

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