List of variants in gene combination PCDH12, RNF14 reported as benign for Diencephalic-mesencephalic junction dysplasia syndrome 1

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_016580.4(PCDH12):c.192T>C (p.Ala64=)	rs164077	0.72217
NM_016580.4(PCDH12):c.2176T>C (p.Leu726=)	rs164073	0.67076
NM_016580.4(PCDH12):c.1153C>A (p.His385Asn)	rs164075	0.64019
NM_016580.4(PCDH12):c.2133C>T (p.Ala711=)	rs164074	0.49888
NM_016580.4(PCDH12):c.291G>A (p.Leu97=)	rs164076	0.47857
NM_016580.4(PCDH12):c.2496G>A (p.Gln832=)	rs2434322	0.09424

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