List of variants in gene PCDH12 reported as uncertain significance for Diencephalic-mesencephalic junction dysplasia syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
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.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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