List of variants in gene combination LOC105378311, PCDH15 reported by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001384140.1(PCDH15):c.92-52T>G	rs10825347	0.50625
NM_001384140.1(PCDH15):c.157+3A>G	rs41274636	0.09581
NM_001384140.1(PCDH15):c.92-444C>T	rs11004349	0.08187
NM_001384140.1(PCDH15):c.92-165G>A	rs116415305	0.01918
NM_001384140.1(PCDH15):c.157+75G>A	rs61060705	0.01705
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.92-483A>G	rs139201679	0.00019
NM_001384140.1(PCDH15):c.92-10C>T	rs202223952	0.00008
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala)	rs750302536	0.00005
NM_001384140.1(PCDH15):c.152G>A (p.Arg51Gln)	rs774448079	0.00001
NM_001384140.1(PCDH15):c.92-13T>C	rs959810549	0.00001
NM_001384140.1(PCDH15):c.149G>T (p.Ser50Ile)	rs1555032911
NM_001384140.1(PCDH15):c.157+198A>C	rs55733914
NM_001384140.1(PCDH15):c.92-131T>A	rs74610892

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