ClinVar Miner

List of variants in gene CPLANE1 reported as benign by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=) rs61745362 0.01450
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192 0.00645
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=) rs16903511 0.00353
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=) rs16903514 0.00352
NM_001384732.1(CPLANE1):c.5738-6C>T rs148634159 0.00186
NM_001384732.1(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282 0.00175
NM_001384732.1(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149 0.00109
NM_001384732.1(CPLANE1):c.4190-10_4190-9del rs111508546
NM_001384732.1(CPLANE1):c.8633-3del rs34646696

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