ClinVar Miner

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

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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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