List of variants studied for Diencephalic-mesencephalic junction dysplasia syndrome 1 by Baylor Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_016580.4(PCDH12):c.1408C>T (p.Arg470Trp)	rs139579018	0.00014
NM_016580.4(PCDH12):c.3370C>T (p.Arg1124Cys)	rs778087717	0.00001
NM_016580.4(PCDH12):c.115G>T (p.Glu39Ter)	rs1753211537
NM_016580.4(PCDH12):c.1951C>G (p.Pro651Ala)	rs1753174154
NM_016580.4(PCDH12):c.3146G>A (p.Arg1049Gln)	rs767329852

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