List of variants in gene combination PCDH12, RNF14 reported as pathogenic 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_016580.4(PCDH12):c.922C>T (p.Arg308Ter)	rs370283860	0.00002
NM_016580.4(PCDH12):c.2515C>T (p.Arg839Ter)	rs375346212	0.00001
NM_016580.4(PCDH12):c.2563C>T (p.Gln855Ter)	rs1048025807	0.00001
NM_016580.4(PCDH12):c.451C>T (p.Arg151Ter)	rs1175979418	0.00001
NM_016580.4(PCDH12):c.2433C>A (p.Cys811Ter)	rs2126927387
NM_016580.4(PCDH12):c.2511del (p.Ser838fs)	rs1596646372
NM_016580.4(PCDH12):c.2765_2766del (p.Pro922fs)	rs1596646165
NM_016580.4(PCDH12):c.669dup (p.Lys224fs)	rs776111123

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