List of variants reported as pathogenic for Cranioectodermal dysplasia 2

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)	rs199952377	0.00019
NM_020779.4(WDR35):c.25-2A>G	rs397515534	0.00003
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys)	rs541910371	0.00003
NM_020779.4(WDR35):c.3345G>A (p.Leu1115=)	rs746128772	0.00002
NM_020779.4(WDR35):c.1559T>C (p.Leu520Pro)	rs397515533	0.00001
NM_020779.4(WDR35):c.2590G>A (p.Ala864Thr)	rs267607175	0.00001
NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly)	rs267607174
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)	rs765513105
NM_020779.4(WDR35):c.2858del (p.Pro953fs)	rs397515334
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr)	rs1553316264
NM_020779.4(WDR35):c.3426G>T (p.Trp1142Cys)	rs1553313859

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