ClinVar Miner

List of variants in gene combination LOC105378311, PCDH15 reported as likely benign for not provided

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001384140.1(PCDH15):c.157+301G>A rs79201822 0.01404
NM_001384140.1(PCDH15):c.92-816C>T rs180844894 0.01055
NM_001384140.1(PCDH15):c.92-178G>C rs187110968 0.00897
NM_001384140.1(PCDH15):c.92-493A>T rs77290854 0.00896
NM_001384140.1(PCDH15):c.92-483A>G rs139201679 0.00019
NM_001384140.1(PCDH15):c.92-10C>T rs202223952 0.00008
NM_001384140.1(PCDH15):c.108G>A (p.Arg36=) rs754686276 0.00001
NM_001384140.1(PCDH15):c.144A>G (p.Glu48=) rs776415796 0.00001
NM_001384140.1(PCDH15):c.153G>T (p.Arg51=) rs2083500176 0.00001
NM_001384140.1(PCDH15):c.157+9G>T rs770490008 0.00001
NM_001384140.1(PCDH15):c.92-13T>C rs959810549 0.00001
NM_001384140.1(PCDH15):c.92-8C>T rs1344911783 0.00001
NM_001384140.1(PCDH15):c.111A>C (p.Gly37=)
NM_001384140.1(PCDH15):c.117A>T (p.Pro39=)
NM_001384140.1(PCDH15):c.120A>G (p.Pro40=)
NM_001384140.1(PCDH15):c.123T>C (p.Ala41=)
NM_001384140.1(PCDH15):c.126C>A (p.Thr42=) rs1469516196
NM_001384140.1(PCDH15):c.126C>T (p.Thr42=)
NM_001384140.1(PCDH15):c.157+12T>G
NM_001384140.1(PCDH15):c.157+20T>C
NM_001384140.1(PCDH15):c.157+7G>A
NM_001384140.1(PCDH15):c.157+9G>A
NM_001384140.1(PCDH15):c.92-131T>A rs74610892
NM_001384140.1(PCDH15):c.92-18G>A
NM_001384140.1(PCDH15):c.92-18del rs754849913
NM_001384140.1(PCDH15):c.92-19G>A
NM_001384140.1(PCDH15):c.92-501C>T rs1589910945
NM_001384140.1(PCDH15):c.92-7T>C rs2083509211
NM_001384140.1(PCDH15):c.92-8C>G rs1344911783
NM_001384140.1(PCDH15):c.93T>C (p.Asp31=) rs1589907174
NM_001384140.1(PCDH15):c.96C>T (p.Cys32=)

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