List of variants in gene combination PCDH12, RNF14 reported as likely 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: 9

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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.1082C>G (p.Ser361Ter)
NM_016580.4(PCDH12):c.115G>T (p.Glu39Ter)	rs1753211537
NM_016580.4(PCDH12):c.207dup (p.Gln70fs)	rs2126931148
NM_016580.4(PCDH12):c.2581G>T (p.Glu861Ter)
NM_016580.4(PCDH12):c.2675del (p.Gly892fs)
NM_016580.4(PCDH12):c.311G>A (p.Cys104Tyr)
NM_016580.4(PCDH12):c.643A>C (p.Thr215Pro)	rs1389877870
NM_016580.4(PCDH12):c.669dup (p.Lys224fs)	rs776111123

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