ClinVar Miner

List of variants in gene CPLANE1 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu) rs147426388 0.00046
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782 0.00023
NM_001384732.1(CPLANE1):c.6512G>A (p.Arg2171Gln) rs377742483 0.00009
NM_001384732.1(CPLANE1):c.2645A>G (p.Tyr882Cys) rs1012462823 0.00004
NM_001384732.1(CPLANE1):c.8410C>T (p.Pro2804Ser) rs377107065 0.00004
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_001384732.1(CPLANE1):c.3857G>A (p.Arg1286His) rs139464953 0.00003
NM_001384732.1(CPLANE1):c.7588+7A>G rs773662834 0.00001
NM_001384732.1(CPLANE1):c.9310+6A>T rs1347208910 0.00001
NC_000005.9:g.(37213835_37221425)_(37249531_?)dup
NC_000005.9:g.(37231152_37238958)_(37249531_?)dup
NM_001384732.1(CPLANE1):c.3358A>G (p.Met1120Val)
NM_001384732.1(CPLANE1):c.3908T>C (p.Val1303Ala)
NM_001384732.1(CPLANE1):c.4168_4177delinsGTTG (p.Leu1390_Cys1393delinsValGly) rs2151198005
NM_001384732.1(CPLANE1):c.5421+5_5421+11delinsTGATAAATACAATTGATA
NM_001384732.1(CPLANE1):c.5819_5820+1del rs750448104
NM_001384732.1(CPLANE1):c.8326_8328delinsTTT (p.Glu2776Phe) rs1561422940
NM_001384732.1(CPLANE1):c.9610G>T (p.Glu3204Ter)

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