List of variants reported as uncertain significance for Diencephalic-mesencephalic junction dysplasia syndrome 1

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_016580.4(PCDH12):c.152A>G (p.Gln51Arg)	rs138473035	0.00025
NM_016580.4(PCDH12):c.1408C>T (p.Arg470Trp)	rs139579018	0.00014
NM_016580.4(PCDH12):c.1758C>T (p.Gly586=)	rs751172816	0.00004
NM_016580.4(PCDH12):c.2734C>T (p.Arg912Trp)	rs574087581	0.00004
NM_016580.4(PCDH12):c.3445G>T (p.Asp1149Tyr)	rs762172327	0.00002
NM_016580.4(PCDH12):c.3370C>T (p.Arg1124Cys)	rs778087717	0.00001
NM_016580.4(PCDH12):c.1951C>G (p.Pro651Ala)	rs1753174154
NM_016580.4(PCDH12):c.1972G>A (p.Val658Ile)
NM_016580.4(PCDH12):c.2051C>A (p.Pro684His)	rs10040926
NM_016580.4(PCDH12):c.2374G>A (p.Gly792Arg)
NM_016580.4(PCDH12):c.3043G>A (p.Glu1015Lys)
NM_016580.4(PCDH12):c.3146G>A (p.Arg1049Gln)	rs767329852
NM_016580.4(PCDH12):c.3404C>T (p.Ala1135Val)
NM_016580.4(PCDH12):c.3419C>T (p.Ser1140Leu)

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