List of variants reported as pathogenic for Cranioectodermal dysplasia 2; Short rib polydactyly syndrome 5

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Total variants: 5

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HGVS	dbSNP
NM_020779.4(WDR35):c.1195-1699dup	rs1327489348
NM_020779.4(WDR35):c.1381C>T (p.Arg461Ter)	rs767751856
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)	rs199952377
NM_020779.4(WDR35):c.2976del (p.Leu993fs)	rs0
NM_020779.4(WDR35):c.994C>T (p.Arg332Ter)	rs199840434

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