ClinVar Miner

List of variants in gene combination CEP85L, PLN reported by Ambry Genetics

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_002667.5(PLN):c.27C>T (p.Arg9=) rs145623013 0.00051
NM_002667.5(PLN):c.145G>A (p.Val49Met) rs749962743 0.00004
NM_002667.5(PLN):c.26G>A (p.Arg9His) rs754782171 0.00003
NM_002667.5(PLN):c.41G>T (p.Arg14Ile) rs151112761 0.00003
NM_002667.5(PLN):c.53T>C (p.Ile18Thr) rs1029766634 0.00003
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_002667.5(PLN):c.34A>G (p.Ile12Val) rs749571694 0.00002
NM_002667.5(PLN):c.73C>T (p.Arg25Cys) rs761056344 0.00001
NM_002667.5(PLN):c.74G>A (p.Arg25His) rs1004405095 0.00001
NM_001042475.3(CEP85L):c.1020+6611A>T rs749900271
NM_002667.5(PLN):c.114C>G (p.Ile38Met)
NM_002667.5(PLN):c.126_127del (p.Leu43fs)
NM_002667.5(PLN):c.131T>C (p.Leu44Pro) rs794729210
NM_002667.5(PLN):c.150G>A (p.Met50Ile)
NM_002667.5(PLN):c.150_159delinsAC (p.Met50fs)
NM_002667.5(PLN):c.154C>A (p.Leu52Ile) rs2114970391
NM_002667.5(PLN):c.156C>A (p.Leu52=) rs1779077253
NM_002667.5(PLN):c.35T>C (p.Ile12Thr)
NM_002667.5(PLN):c.35dup (p.Arg13fs)
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002667.5(PLN):c.38G>A (p.Arg13Lys)
NM_002667.5(PLN):c.45C>A (p.Ala15=)
NM_002667.5(PLN):c.56A>G (p.Glu19Gly) rs2114969791
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_002667.5(PLN):c.87G>T (p.Gln29His)

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