ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001042475.3(CEP85L):c.1020+5170C>T rs537800022 0.00231
NM_001042475.3(CEP85L):c.1020+5206G>A rs146145000 0.00195
NM_001042475.3(CEP85L):c.1020+17159G>A rs150080760 0.00167
NM_001042475.3(CEP85L):c.1020+6034A>G rs117280667 0.00032
NM_001042475.3(CEP85L):c.1020+17275G>C rs188578681 0.00029
NM_001042475.3(CEP85L):c.1020+5442A>T rs528466147 0.00011
NM_001042475.3(CEP85L):c.1020+5558G>A rs886061004 0.00004
NM_001042475.3(CEP85L):c.1020+6172T>C rs768837853 0.00004
NM_002667.5(PLN):c.145G>A (p.Val49Met) rs749962743 0.00004
NM_001042475.3(CEP85L):c.1020+5224G>A rs886061007 0.00003
NM_001042475.3(CEP85L):c.1020+5314G>A rs886061005 0.00003
NM_002667.5(PLN):c.53T>C (p.Ile18Thr) rs1029766634 0.00003
NM_001042475.3(CEP85L):c.1020+17181A>T rs779232815 0.00001
NM_001042475.3(CEP85L):c.1020+17347A>G rs1230141633 0.00001
NM_002667.5(PLN):c.61C>A (p.Pro21Thr) rs397516786 0.00001

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